ClinVar

NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu)

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: 111982722 (on Assembly GRCh38)
• Chr1: 112525344 (on Assembly GRCh37)

Preferred name:

NM_001378969.1(KCND3):c.5C>A (p.Ala2Glu)

HGVS:

• NC_000001.11:g.111982722G>T
• NG_032011.2:g.11434C>A
• NM_001378969.1:c.5C>AMANE SELECT
• NM_001378970.1:c.5C>A
• NM_004980.5:c.5C>A
• NM_172198.3:c.5C>A
• NP_001365898.1:p.Ala2Glu
• NP_001365899.1:p.Ala2Glu
• NP_004971.2:p.Ala2Glu
• NP_004971.2:p.Ala2Glu
• NP_751948.1:p.Ala2Glu
• LRG_445t1:c.5C>A
• LRG_445:g.11434C>A
• LRG_445p1:p.Ala2Glu
• NC_000001.10:g.112525344G>T
• NM_004980.4:c.5C>A

This HGVS expression did not pass validation

Protein change:

A2E

Links:

dbSNP: rs201340369

NCBI 1000 Genomes Browser:

rs201340369

Molecular consequence:

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

Observations:

1