ClinVar

NM_004366.6(CLCN2):c.1412G>A (p.Arg471His)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q27.1

Genomic location:

• Chr3: 184354643 (on Assembly GRCh38)
• Chr3: 184072431 (on Assembly GRCh37)

Preferred name:

NM_004366.6(CLCN2):c.1412G>A (p.Arg471His)

HGVS:

• NC_000003.12:g.184354643C>T
• NG_016422.1:g.11961G>A
• NM_001171087.3:c.1397-36G>A
• NM_001171088.3:c.1280G>A
• NM_001171089.3:c.1412G>A
• NM_004366.6:c.1412G>AMANE SELECT
• NP_001164559.1:p.Arg427His
• NP_001164560.1:p.Arg471His
• NP_004357.3:p.Arg471His
• NP_004357.3:p.Arg471His
• NC_000003.11:g.184072431C>T
• NM_004366.4:c.1412G>A
• NM_004366.5:c.1412G>A

This HGVS expression did not pass validation

Protein change:

R427H

Links:

dbSNP: rs771507094

Molecular consequence:

• NM_001171087.3:c.1397-36G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001171088.3:c.1280G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171089.3:c.1412G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_004366.6:c.1412G>A - missense variant - [Sequence Ontology: SO:0001583]