ENSDARG00000018566

Ensembl ID:
ENSDARG00000018566
Human Orthologue:
FLNC
Human Description:
filamin C, gamma [Source:HGNC Symbol;Acc:3756]
Mouse Orthologue:
Flnc
Mouse Description:
filamin C, gamma Gene [Source:MGI Symbol;Acc:MGI:95557]

Alleles

There are 5 alleles of this gene:

Allele name Consequence Status Availability Estimate
sa24724 Nonsense Mutation detected in F1 DNA During 2014
sa8067 Nonsense Mutation detected in F1 DNA During 2014
sa6812 Nonsense Mutation detected in F1 DNA During 2014
sa18138 Nonsense Available for shipment Available now
sa15040 Essential Splice Site Available for shipment Available now

Mutation Details

Allele Name:
sa24724
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
C > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000046218 Nonsense 53 2719 1 48
Genomic Location:
Chromosome 25 (position 36081461)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
None
Flanking Sequence:
GAGGACGCGCCGTGGAAGAAGATCCAACAGAACACCTTCACCAGGTGGTG[C/A]AATGAACACCTCAAATGCGTTAATAAGGGCGTCACTGACCTGCAGAAAGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa8067
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
A > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000046218 Nonsense 58 2719 1 48
Genomic Location:
Chromosome 25 (position 36081474)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GGAAGAAGATCCAACAGAACACCTTCACCAGGTGGTGCAATGAACACCTY[A/T]AATGCGTTAATAAGGGCGTCACTGACCTGCAGAAAGACCTGGGCGATGGC
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa6812
Current Status:
Mutation detected in F1 DNA
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
We currently estimate that this allele will be available during 2014.
Mutation:
G > A
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000046218 Nonsense 216 2719 3 48
Genomic Location:
Chromosome 25 (position 36085855)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CATATAACTTTAACTCTTTATGTAGGTCTGTGCCCTGACTGGCAAACATG[G/A]GACCCCAACCAGCCWGTGGAAAATGCTCGTGAGGCCATGCAGCAGGCCGA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa18138
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
G > T
Consequence:
Nonsense
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000046218 Nonsense 898 2719 18 48
Genomic Location:
Chromosome 25 (position 36090761)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
CATTCAAAGTCAAGGTGGACCCATCTCATGATGCTGGTAAAGTCAGAGCT[G/T]AAGGTCCTGGAATTWACAAGACAGGTGGGTGTMATCCACAACTTTAAGAA
Associated Phenotype:
Not determined

Mutation Details

Allele Name:
sa15040
Current Status:
Available for shipment
For more information about the meaning of this status and other statuses, please see our FAQs.
Availability:
Mutation:
A > T
Consequence:
Essential Splice Site
Transcript ID Consequence Amino Acid Affected Amino Acid Total Exon Affected Exon Total
ENSDART00000046218 Essential Splice Site 906 2719 19 48
Genomic Location:
Chromosome 25 (position 36090859)
KASP Assay ID:
None (used for ordering genotyping assays from LGC Genomics)
KASP Sequence:
GAACGTGAGCCCTGGAGAAATTCCRATCAACWRACACAGCTCTRCTTTAC[A/T]GGCGTTCAGGTGGAAATTCCAACCCATTTCACCATCTTCACCAAAGGAGC
Associated Phenotype:
Not determined

Register

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* quick link - http://q.sanger.ac.uk/tgp2mhfh