ClinVar

NM_019842.4(KCNQ5):c.2110G>A (p.Ala704Thr)

Gene:

KCNQ5:potassium voltage-gated channel subfamily Q member 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q13

Genomic location:

• Chr6: 73194725 (on Assembly GRCh38)
• Chr6: 73904448 (on Assembly GRCh37)

Preferred name:

NM_019842.4(KCNQ5):c.2110G>A (p.Ala704Thr)

HGVS:

• NC_000006.12:g.73194725G>A
• NG_047170.1:g.578446G>A
• NM_001160130.2:c.2083G>A
• NM_001160132.2:c.2140G>A
• NM_001160133.2:c.2167G>A
• NM_001160134.2:c.1780G>A
• NM_019842.4:c.2110G>AMANE SELECT
• NP_001153602.1:p.Ala695Thr
• NP_001153604.1:p.Ala714Thr
• NP_001153605.1:p.Ala723Thr
• NP_001153606.1:p.Ala594Thr
• NP_062816.2:p.Ala704Thr
• NP_062816.2:p.Ala704Thr
• NC_000006.11:g.73904448G>A
• NM_019842.3:c.2110G>A

This HGVS expression did not pass validation

Protein change:

A594T

Links:

dbSNP: rs148543637

NCBI 1000 Genomes Browser:

rs148543637

Molecular consequence:

• NM_001160130.2:c.2083G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160132.2:c.2140G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160133.2:c.2167G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001160134.2:c.1780G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_019842.4:c.2110G>A - missense variant - [Sequence Ontology: SO:0001583]