ClinVar

NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)

Gene:

CHD2:chromodomain helicase DNA binding protein 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q26.1

Genomic location:

• Chr15: 92967419 (on Assembly GRCh38)
• Chr15: 93510649 (on Assembly GRCh37)

Preferred name:

NM_001271.4(CHD2):c.2095C>T (p.Arg699Trp)

HGVS:

• NC_000015.10:g.92967419C>T
• NG_012826.2:g.72099C>T
• NM_001271.4:c.2095C>TMANE SELECT
• NP_001262.3:p.Arg699Trp
• LRG_1425t1:c.2095C>T
• LRG_1425:g.72099C>T
• LRG_1425p1:p.Arg699Trp
• NC_000015.9:g.93510649C>T
• NG_012826.1:g.72099C>T
• NM_001271.3:c.2095C>T

This HGVS expression did not pass validation

Protein change:

R699W

Links:

Molecular consequence:

• NM_001271.4:c.2095C>T - missense variant - [Sequence Ontology: SO:0001583]