ClinVar

NM_001378969.1(KCND3):c.1645C>T (p.Arg549Cys)

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: 111777147 (on Assembly GRCh38)
• Chr1: 112319769 (on Assembly GRCh37)

Preferred name:

NM_001378969.1(KCND3):c.1645C>T (p.Arg549Cys)

HGVS:

• NC_000001.11:g.111777147G>A
• NG_032011.2:g.217009C>T
• NM_001378969.1:c.1645C>TMANE SELECT
• NM_001378970.1:c.1588C>T
• NM_004980.5:c.1645C>T
• NM_172198.3:c.1588C>T
• NP_001365898.1:p.Arg549Cys
• NP_001365899.1:p.Arg530Cys
• NP_004971.2:p.Arg549Cys
• NP_004971.2:p.Arg549Cys
• NP_751948.1:p.Arg530Cys
• LRG_445t1:c.1645C>T
• LRG_445:g.217009C>T
• LRG_445p1:p.Arg549Cys
• NC_000001.10:g.112319769G>A
• NM_004980.4:c.1645C>T

This HGVS expression did not pass validation

Protein change:

R530C

Links:

dbSNP: rs1294150954

NCBI 1000 Genomes Browser:

rs1294150954

Molecular consequence:

• NM_001378969.1:c.1645C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378970.1:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_004980.5:c.1645C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_172198.3:c.1588C>T - missense variant - [Sequence Ontology: SO:0001583]