ClinVar

NM_031263.4(HNRNPK):c.*49T>C

Gene:

HNRNPK:heterogeneous nuclear ribonucleoprotein K [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q21.32

Genomic location:

• Chr9: 83969358 (on Assembly GRCh38)
• Chr9: 86584273 (on Assembly GRCh37)

Preferred name:

NM_031263.4(HNRNPK):c.*49T>C

HGVS:

• NC_000009.12:g.83969358A>G
• NG_029577.1:g.16297T>C
• NM_001318186.2:c.1312T>C
• NM_001318187.2:c.*49T>C
• NM_001318188.2:c.1384T>C
• NM_002140.5:c.*49T>C
• NM_031262.4:c.1384T>C
• NM_031263.4:c.*49T>CMANE SELECT
• NP_001305115.1:p.Phe438Leu
• NP_001305117.1:p.Phe462Leu
• NP_112552.1:p.Phe462Leu
• NC_000009.11:g.86584273A>G

This HGVS expression did not pass validation

Protein change:

F438L

Links:

dbSNP: rs2133008374

NCBI 1000 Genomes Browser:

rs2133008374

Molecular consequence:

• NM_001318187.2:c.*49T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_002140.5:c.*49T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_031263.4:c.*49T>C - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001318186.2:c.1312T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318188.2:c.1384T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_031262.4:c.1384T>C - missense variant - [Sequence Ontology: SO:0001583]