ClinVar

NM_031844.3(HNRNPU):c.375G>C (p.Glu125Asp)

Gene:

HNRNPU:heterogeneous nuclear ribonucleoprotein U [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q44

Genomic location:

• Chr1: 244863933 (on Assembly GRCh38)
• Chr1: 245027235 (on Assembly GRCh37)

Preferred name:

NM_031844.3(HNRNPU):c.375G>C (p.Glu125Asp)

HGVS:

• NC_000001.11:g.244863933C>G
• NG_042184.1:g.5593G>C
• NM_004501.3:c.375G>C
• NM_031844.3:c.375G>CMANE SELECT
• NP_004492.2:p.Glu125Asp
• NP_114032.2:p.Glu125Asp
• NC_000001.10:g.245027235C>G
• NM_031844.2:c.375G>C

This HGVS expression did not pass validation

Protein change:

E125D

Links:

dbSNP: rs752671029

NCBI 1000 Genomes Browser:

rs752671029

Molecular consequence:

• NM_004501.3:c.375G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_031844.3:c.375G>C - missense variant - [Sequence Ontology: SO:0001583]