ClinVar

NM_031844.3(HNRNPU):c.436G>C (p.Gly146Arg)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q44

Genomic location:

• Chr1: 244863872 (on Assembly GRCh38)
• Chr1: 245027174 (on Assembly GRCh37)

Preferred name:

NM_031844.3(HNRNPU):c.436G>C (p.Gly146Arg)

HGVS:

• NC_000001.11:g.244863872C>G
• NG_042184.1:g.5654G>C
• NG_094011.1:g.56C>G
• NM_004501.3:c.436G>C
• NM_031844.3:c.436G>CMANE SELECT
• NP_004492.2:p.Gly146Arg
• NP_114032.2:p.Gly146Arg
• NC_000001.10:g.245027174C>G

This HGVS expression did not pass validation

Protein change:

G146R

Molecular consequence:

• NM_004501.3:c.436G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_031844.3:c.436G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1