Total 1 pathogenic variants reported for Aplasia cutis congenita
Single Nucleotide Variant (1)
Variant Name
Variant Type
Variant Genomic Location
Clinical Significance
Phenotype Condition
Review Status
ClinGen Allele
dbSNP ID
Variation/condition record
NM_014753.4(BMS1):c.2789G>A (p.Arg930His)
SNV
Germline
Chr10:42820527
Pathogenic
Aplasia cutis congenita
No Assertion Criteria Provided
CA170730
rs_587777706
1 Submitters
RCV000144047