ClinVar

NM_001378969.1(KCND3):c.1041G>A (p.Ser347=)

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: 111981686 (on Assembly GRCh38)
• Chr1: 112524308 (on Assembly GRCh37)

Preferred name:

NM_001378969.1(KCND3):c.1041G>A (p.Ser347=)

HGVS:

• NC_000001.11:g.111981686C>T
• NG_032011.2:g.12470G>A
• NM_001378969.1:c.1041G>AMANE SELECT
• NM_001378970.1:c.1041G>A
• NM_004980.5:c.1041G>A
• NM_172198.3:c.1041G>A
• NP_001365898.1:p.Ser347=
• NP_001365899.1:p.Ser347=
• NP_004971.2:p.Ser347=
• NP_004971.2:p.Ser347=
• NP_751948.1:p.Ser347=
• LRG_445t1:c.1041G>A
• LRG_445:g.12470G>A
• LRG_445p1:p.Ser347=
• NC_000001.10:g.112524308C>T
• NM_004980.4:c.1041G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs369361457

NCBI 1000 Genomes Browser:

rs369361457

Molecular consequence:

• NM_001378969.1:c.1041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001378970.1:c.1041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_004980.5:c.1041G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_172198.3:c.1041G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1