ClinVar

NM_002907.4(RECQL):c.1892T>A (p.Leu631His)

Genes:

RECQL:RecQ like helicase [Gene - OMIM - HGNC]
PYROXD1:pyridine nucleotide-disulphide oxidoreductase domain 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

12p12.1

Genomic location:

• Chr12: 21470252 (on Assembly GRCh38)
• Chr12: 21623186 (on Assembly GRCh37)

Preferred name:

NM_002907.4(RECQL):c.1892T>A (p.Leu631His)

HGVS:

• NC_000012.12:g.21470252A>T
• NG_053196.1:g.37649A>T
• NM_001350912.2:c.*1498A>T
• NM_001350913.2:c.*1498A>T
• NM_002907.4:c.1892T>AMANE SELECT
• NM_024854.5:c.*1498A>TMANE SELECT
• NM_032941.3:c.1892T>A
• NP_002898.2:p.Leu631His
• NP_116559.1:p.Leu631His
• NC_000012.11:g.21623186A>T
• NM_002907.3:c.1892T>A

This HGVS expression did not pass validation

Protein change:

L631H

Molecular consequence:

• NM_001350912.2:c.*1498A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_001350913.2:c.*1498A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_024854.5:c.*1498A>T - 3 prime UTR variant - [Sequence Ontology: SO:0001624]
• NM_002907.4:c.1892T>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032941.3:c.1892T>A - missense variant - [Sequence Ontology: SO:0001583]