ClinVar

NM_001127898.4(CLCN5):c.1914C>T (p.Pro638=)

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: 50090285 (on Assembly GRCh38)
• ChrX: 49854942 (on Assembly GRCh37)

Preferred name:

NM_001127898.4(CLCN5):c.1914C>T (p.Pro638=)

HGVS:

• NC_000023.11:g.50090285C>T
• NG_007159.3:g.172670C>T
• NM_000084.5:c.1704C>T
• NM_001127898.4:c.1914C>TMANE SELECT
• NM_001127899.4:c.1914C>T
• NM_001282163.2:c.1764C>T
• NP_000075.1:p.Pro568=
• NP_001121370.1:p.Pro638=
• NP_001121371.1:p.Pro638=
• NP_001269092.1:p.Pro588=
• NC_000023.10:g.49854942C>T
• NM_000084.2:c.1704C>T
• NM_000084.3:c.1704C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs34173954

NCBI 1000 Genomes Browser:

rs34173954

Molecular consequence:

• NM_000084.5:c.1704C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127898.4:c.1914C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001127899.4:c.1914C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001282163.2:c.1764C>T - synonymous variant - [Sequence Ontology: SO:0001819]