ClinVar

NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)

Genes:

RPL36A-HNRNPH2:RPL36A-HNRNPH2 readthrough [Gene - HGNC]
HNRNPH2:heterogeneous nuclear ribonucleoprotein H2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq22.1

Genomic location:

• ChrX: 101412604 (on Assembly GRCh38)
• ChrX: 100667592 (on Assembly GRCh37)

Preferred name:

NM_019597.5(HNRNPH2):c.616C>T (p.Arg206Trp)

HGVS:

• NC_000023.11:g.101412604C>T
• NG_007119.1:g.360G>A
• NG_016327.1:g.9402C>T
• NM_001032393.3:c.616C>T
• NM_001199973.2:c.*612C>T
• NM_001199974.2:c.*612C>T
• NM_019597.5:c.616C>TMANE SELECT
• NP_001027565.1:p.Arg206Trp
• NP_001027565.1:p.Arg206Trp
• NP_062543.1:p.Arg206Trp
• LRG_672:g.360G>A
• NC_000023.10:g.100667592C>T
• NM_001032393.2:c.616C>T
• NM_019597.4:c.616C>T
• P55795:p.Arg206Trp
• p.(Arg206Trp)

This HGVS expression did not pass validation

Protein change:

R206W; ARG206TRP

Links:

UniProtKB: P55795#VAR_077234; OMIM: 300610.0001; dbSNP: rs886039763

NCBI 1000 Genomes Browser:

rs886039763

Molecular consequence:

• NM_001199973.2:c.*612C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001199974.2:c.*612C>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001032393.3:c.616C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_019597.5:c.616C>T - missense variant - [Sequence Ontology: SO:0001583]

Functional consequence:

• Unknown function
• functionally_abnormal [Sequence Ontology: SO:0002218]