ClinVar

NM_001282684.2(KCTD17):c.55G>A (p.Ala19Thr)

Genes:

LOC130067340:ATAC-STARR-seq lymphoblastoid silent region 13677 [Gene]
KCTD17:potassium channel tetramerization domain containing 17 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

22q12.3

Genomic location:

• Chr22: 37051815 (on Assembly GRCh38)
• Chr22: 37447855 (on Assembly GRCh37)

Preferred name:

NM_001282684.2(KCTD17):c.55G>A (p.Ala19Thr)

HGVS:

• NC_000022.11:g.37051815G>A
• NG_052003.1:g.5080G>A
• NM_001282684.2:c.55G>AMANE SELECT
• NM_001282685.2:c.55G>A
• NM_001282686.2:c.55G>A
• NM_024681.3:c.76G>A
• NM_024681.4:c.55G>A
• NP_001269613.1:p.Ala26Thr
• NP_001269613.2:p.Ala19Thr
• NP_001269614.2:p.Ala19Thr
• NP_001269615.2:p.Ala19Thr
• NP_078957.3:p.Ala19Thr
• NC_000022.10:g.37447855G>A
• NM_001282684.1:c.76G>A

This HGVS expression did not pass validation

Protein change:

A19T

Links:

dbSNP: rs113687833

NCBI 1000 Genomes Browser:

rs113687833

Molecular consequence:

• NM_001282684.2:c.55G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282685.2:c.55G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282686.2:c.55G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_024681.4:c.55G>A - missense variant - [Sequence Ontology: SO:0001583]