Protein level identifier (NP_006740):
p.Val144Glyfs*85
cDNA level identifier (NM_006749):
c.516+1G>A
Gene level identifier:
g.76548G>A
Archive identifier/Other designation:
skipping of exon 4 on mRNA level
Reference, alternative allele:
C, T
Genomic location hg(19)
Gene name:
Consequence:
splice site
Pathogenicity scoring:
Probably pathogenic
CADD score:
not available
Positive functional evidence:
not available
Number of all included cases:
2 heterozygous (2 in total).