ClinVar

NM_004700.4(KCNQ4):c.686C>T (p.Ser229Leu)

Gene:

KCNQ4:potassium voltage-gated channel subfamily Q member 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p34.2

Genomic location:

• Chr1: 40818658 (on Assembly GRCh38)
• Chr1: 41284330 (on Assembly GRCh37)

Preferred name:

NM_004700.4(KCNQ4):c.686C>T (p.Ser229Leu)

HGVS:

• NC_000001.11:g.40818658C>T
• NG_008139.3:g.39872C>T
• NM_004700.4:c.686C>TMANE SELECT
• NM_172163.3:c.686C>T
• NP_004691.2:p.Ser229Leu
• NP_751895.1:p.Ser229Leu
• LRG_1378t1:c.686C>T
• LRG_1378:g.39872C>T
• LRG_1378p1:p.Ser229Leu
• NC_000001.10:g.41284330C>T
• NM_004700.3:c.686C>T

This HGVS expression did not pass validation

Protein change:

S229L

Links:

dbSNP: rs1016512710

NCBI 1000 Genomes Browser:

rs1016512710

Molecular consequence:

• NM_004700.4:c.686C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172163.3:c.686C>T - missense variant - [Sequence Ontology: SO:0001583]