ClinVar

NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln)

Gene:

CLCN2:chloride voltage-gated channel 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.1

Genomic location:

• Chr3: 184353341 (on Assembly GRCh38)
• Chr3: 184071129 (on Assembly GRCh37)

Preferred name:

NM_004366.6(CLCN2):c.1937G>A (p.Arg646Gln)

HGVS:

• NC_000003.12:g.184353341C>T
• NG_016422.1:g.13263G>A
• NM_001171087.3:c.1886G>A
• NM_001171088.3:c.1805G>A
• NM_001171089.3:c.1937G>A
• NM_004366.6:c.1937G>AMANE SELECT
• NP_001164558.1:p.Arg629Gln
• NP_001164559.1:p.Arg602Gln
• NP_001164560.1:p.Arg646Gln
• NP_004357.3:p.Arg646Gln
• NP_004357.3:p.Arg646Gln
• NC_000003.11:g.184071129C>T
• NM_004366.5:c.1937G>A
• P51788:p.Arg646Gln

This HGVS expression did not pass validation

Protein change:

R602Q

Links:

UniProtKB: P51788#VAR_057892; dbSNP: rs115961753

NCBI 1000 Genomes Browser:

rs115961753

Molecular consequence:

• NM_001171087.3:c.1886G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171088.3:c.1805G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171089.3:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004366.6:c.1937G>A - missense variant - [Sequence Ontology: SO:0001583]