ClinVar

NM_000083.3(CLCN1):c.394A>T (p.Ser132Cys)

Gene:

CLCN1:chloride voltage-gated channel 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

7q34

Genomic location:

• Chr7: 143320756 (on Assembly GRCh38)
• Chr7: 143017849 (on Assembly GRCh37)

Preferred name:

NM_000083.3(CLCN1):c.394A>T (p.Ser132Cys)

HGVS:

• NC_000007.14:g.143320756A>T
• NG_009815.1:g.9631A>T
• NG_009815.2:g.9631A>T
• NM_000083.3:c.394A>TMANE SELECT
• NP_000074.3:p.Ser132Cys
• NC_000007.13:g.143017849A>T
• NM_000083.2:c.394A>T
• NR_046453.2:n.496A>T

This HGVS expression did not pass validation

Protein change:

S132C

Links:

dbSNP: rs80356684

NCBI 1000 Genomes Browser:

rs80356684

Molecular consequence:

• NM_000083.3:c.394A>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_046453.2:n.496A>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]