ClinVar

NM_000439.5(PCSK1):c.181-58A>C

Genes:

CAST:calpastatin [Gene - OMIM - HGNC]
PCSK1:proprotein convertase subtilisin/kexin type 1 [Gene - OMIM - HGNC]
LOC101929710:uncharacterized LOC101929710 [Gene]

Variant type:

single nucleotide variant

Cytogenetic location:

5q15

Genomic location:

• Chr5: 96429375 (on Assembly GRCh38)
• Chr5: 95765079 (on Assembly GRCh37)

Preferred name:

NM_000439.5(PCSK1):c.181-58A>C

HGVS:

• NC_000005.10:g.96429375T>G
• NG_021161.1:g.8907A>C
• NM_000439.5:c.181-58A>CMANE SELECT
• NM_001177875.2:c.40-58A>C
• NC_000005.9:g.95765079T>G

This HGVS expression did not pass validation

Links:

dbSNP: rs79000322

NCBI 1000 Genomes Browser:

rs79000322

Molecular consequence:

• NM_000439.5:c.181-58A>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001177875.2:c.40-58A>C - intron variant - [Sequence Ontology: SO:0001627]