ClinVar

NM_001127898.4(CLCN5):c.1396G>C (p.Asp466His)

Gene:

CLCN5:chloride voltage-gated channel 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

• ChrX: 50086709 (on Assembly GRCh38)
• ChrX: 49851366 (on Assembly GRCh37)

Preferred name:

NM_001127898.4(CLCN5):c.1396G>C (p.Asp466His)

HGVS:

• NC_000023.11:g.50086709G>C
• NG_007159.3:g.169094G>C
• NM_000084.5:c.1186G>C
• NM_001127898.4:c.1396G>CMANE SELECT
• NM_001127899.4:c.1396G>C
• NM_001282163.2:c.1246G>C
• NP_000075.1:p.Asp396His
• NP_001121370.1:p.Asp466His
• NP_001121371.1:p.Asp466His
• NP_001269092.1:p.Asp416His
• NC_000023.10:g.49851366G>C
• NM_000084.4:c.1186G>C

This HGVS expression did not pass validation

Protein change:

D396H

Links:

dbSNP: rs1569540369

NCBI 1000 Genomes Browser:

rs1569540369

Molecular consequence:

• NM_000084.5:c.1186G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127898.4:c.1396G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127899.4:c.1396G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282163.2:c.1246G>C - missense variant - [Sequence Ontology: SO:0001583]