ClinVar

NM_020822.3(KCNT1):c.1638G>A (p.Pro546=)

Gene:

KCNT1:potassium sodium-activated channel subfamily T member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q34.3

Genomic location:

• Chr9: 135770316 (on Assembly GRCh38)
• Chr9: 138662162 (on Assembly GRCh37)

Preferred name:

NM_020822.3(KCNT1):c.1638G>A (p.Pro546=)

HGVS:

• NC_000009.12:g.135770316G>A
• NG_033070.1:g.73132G>A
• NM_001272003.2:c.1503G>A
• NM_020822.3:c.1638G>AMANE SELECT
• NP_001258932.1:p.Pro501=
• NP_065873.2:p.Pro546=
• NC_000009.11:g.138662162G>A
• NM_020822.2:c.1638G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs138352399

NCBI 1000 Genomes Browser:

rs138352399

Molecular consequence:

• NM_001272003.2:c.1503G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_020822.3:c.1638G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1