ClinVar

NM_001378969.1(KCND3):c.957C>T (p.Ser319=)

Gene:

KCND3:potassium voltage-gated channel subfamily D member 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1p13.2

Genomic location:

• Chr1: 111981770 (on Assembly GRCh38)
• Chr1: 112524392 (on Assembly GRCh37)

Preferred name:

NM_001378969.1(KCND3):c.957C>T (p.Ser319=)

HGVS:

• NC_000001.11:g.111981770G>A
• NG_032011.2:g.12386C>T
• NM_001378969.1:c.957C>TMANE SELECT
• NM_001378970.1:c.957C>T
• NM_004980.5:c.957C>T
• NM_172198.3:c.957C>T
• NP_001365898.1:p.Ser319=
• NP_001365899.1:p.Ser319=
• NP_004971.2:p.Ser319=
• NP_004971.2:p.Ser319=
• NP_751948.1:p.Ser319=
• LRG_445t1:c.957C>T
• LRG_445:g.12386C>T
• LRG_445p1:p.Ser319=
• NC_000001.10:g.112524392G>A
• NM_004980.4:c.957C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs61733426

NCBI 1000 Genomes Browser:

rs61733426

Molecular consequence:

• NM_001378969.1:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001378970.1:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004980.5:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172198.3:c.957C>T - synonymous variant - [Sequence Ontology: SO:0001819]