ClinVar

NM_002242.4(KCNJ13):c.913C>T (p.Arg305Ter)

Genes:

GIGYF2:GRB10 interacting GYF protein 2 [Gene - OMIM - HGNC]
KCNJ13:potassium inwardly rectifying channel subfamily J member 13 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q37.1

Genomic location:

• Chr2: 232768361 (on Assembly GRCh38)
• Chr2: 233633071 (on Assembly GRCh37)

Preferred name:

NM_002242.4(KCNJ13):c.913C>T (p.Arg305Ter)

HGVS:

• NC_000002.12:g.232768361G>A
• NG_011847.1:g.76057G>A
• NG_016742.1:g.13205C>T
• NM_001103146.3:c.532+6925G>AMANE SELECT
• NM_001103147.2:c.532+6925G>A
• NM_001103148.2:c.532+6925G>A
• NM_001172416.1:c.*392C>T
• NM_001172417.1:c.673C>T
• NM_002242.4:c.913C>TMANE SELECT
• NM_015575.4:c.532+6925G>A
• NP_001165888.1:p.Arg225Ter
• NP_002233.2:p.Arg305Ter
• NC_000002.11:g.233633071G>A

This HGVS expression did not pass validation

Protein change:

R225*

Links:

dbSNP: rs1699065038

NCBI 1000 Genomes Browser:

rs1699065038

Molecular consequence:

• NM_001172416.1:c.*392C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001103146.3:c.532+6925G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001103147.2:c.532+6925G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001103148.2:c.532+6925G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_015575.4:c.532+6925G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001172417.1:c.673C>T - nonsense - [Sequence Ontology: SO:0001587]
• NM_002242.4:c.913C>T - nonsense - [Sequence Ontology: SO:0001587]