ClinVar

NM_031844.3(HNRNPU):c.2424+16T>C

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q44

Genomic location:

• Chr1: 244854957 (on Assembly GRCh38)
• Chr1: 245018259 (on Assembly GRCh37)

Preferred name:

NM_031844.3(HNRNPU):c.2424+16T>C

HGVS:

• NC_000001.11:g.244854957A>G
• NG_042184.1:g.14569T>C
• NM_004501.3:c.2367+16T>C
• NM_031844.3:c.2424+16T>CMANE SELECT
• NC_000001.10:g.245018259A>G

This HGVS expression did not pass validation

Links:

dbSNP: rs537512846

NCBI 1000 Genomes Browser:

rs537512846

Molecular consequence:

• NM_004501.3:c.2367+16T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_031844.3:c.2424+16T>C - intron variant - [Sequence Ontology: SO:0001627]