ClinVar

NM_001127898.4(CLCN5):c.1745G>T (p.Gly582Val)

Genes:

LOC126863258:BRD4-independent group 4 enhancer GRCh37_chrX:49854497-49855696 [Gene]
CLCN5:chloride voltage-gated channel 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp11.23

Genomic location:

• ChrX: 50090116 (on Assembly GRCh38)
• ChrX: 49854773 (on Assembly GRCh37)

Preferred name:

NM_001127898.4(CLCN5):c.1745G>T (p.Gly582Val)

HGVS:

• NC_000023.11:g.50090116G>T
• NG_007159.3:g.172501G>T
• NM_000084.5:c.1535G>T
• NM_001127898.4:c.1745G>TMANE SELECT
• NM_001127899.4:c.1745G>T
• NM_001282163.2:c.1595G>T
• NP_000075.1:p.Gly512Val
• NP_001121370.1:p.Gly582Val
• NP_001121371.1:p.Gly582Val
• NP_001269092.1:p.Gly532Val
• NC_000023.10:g.49854773G>T
• NM_000084.4:c.1535G>T

This HGVS expression did not pass validation

Protein change:

G512V

Links:

dbSNP: rs1602133606

NCBI 1000 Genomes Browser:

rs1602133606

Molecular consequence:

• NM_000084.5:c.1535G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127898.4:c.1745G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001127899.4:c.1745G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282163.2:c.1595G>T - missense variant - [Sequence Ontology: SO:0001583]