Protein level identifier (NP_115785):
p.Glu417_Arg497del
cDNA level identifier (NM_032409):
c.1252-52_1488+6del
Gene level identifier:
g.15489-15783del
Archive identifier/Other designation:
deletion of exon 7
Reference, alternative allele:
GAAAAGGTTAGATGGGCGGGCAGCGTGATGTCTCACCCACTGCTTCTGAGCAGGTGTCCACGGCCCGTCCTGGCCCCAGGGCAGTGATTGACTACAGCAAGGCTGATGCCTGGGCAGTGGGAGCCATCGCCTATGAAATCTTCGGGCTTGTCAATCCCTTCTACGGCCAGGGCAAGGCCCACCTTGAAAGCCGCAGCTACCAAGAGGCTCAGCTACCTGCACTGCCCGAGTCAGTGCCTCCAGACGTGAGACAGTTGGTGAGGGCACTGCTCCAGCGAGAGGCCAGCAAGGTGAGG, G
Genomic location hg(19)
1:20975435 (not available on ExAC)
Gene name:
Consequence:
structural variation includes copy number variants inversions and translocations
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
5 compound heterozygous (5 in total).