ClinVar

NM_173562.5(KCTD20):c.1180C>T (p.His394Tyr)

Gene:

KCTD20:potassium channel tetramerization domain containing 20 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6p21.31

Genomic location:

• Chr6: 36487095 (on Assembly GRCh38)
• Chr6: 36454872 (on Assembly GRCh37)

Preferred name:

NM_173562.5(KCTD20):c.1180C>T (p.His394Tyr)

HGVS:

• NC_000006.12:g.36487095C>T
• NM_001286579.2:c.682C>T
• NM_001286580.2:c.745C>T
• NM_173562.5:c.1180C>TMANE SELECT
• NP_001273508.1:p.His228Tyr
• NP_001273509.1:p.His249Tyr
• NP_775833.2:p.His394Tyr
• NC_000006.11:g.36454872C>T
• NM_173562.3:c.1180C>T
• NR_104480.2:n.943C>T
• NR_104481.2:n.634C>T

This HGVS expression did not pass validation

Protein change:

H228Y

Molecular consequence:

• NM_001286579.2:c.682C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286580.2:c.745C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_173562.5:c.1180C>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_104480.2:n.943C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_104481.2:n.634C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]