ClinVar

NM_004260.4(RECQL4):c.1565G>A (p.Arg522His)

Gene:

RECQL4:RecQ like helicase 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 144514991 (on Assembly GRCh38)
• Chr8: 145740375 (on Assembly GRCh37)

Preferred name:

NM_004260.4(RECQL4):c.1565G>A (p.Arg522His)

HGVS:

• NC_000008.11:g.144514991C>T
• NG_016430.2:g.7836G>A
• NG_033083.1:g.2027C>T
• NM_004260.4:c.1565G>AMANE SELECT
• NP_004251.3:p.Arg522His
• NP_004251.4:p.Arg522His
• LRG_277t1:c.1565G>A
• LRG_277:g.7836G>A
• LRG_277p1:p.Arg522His
• NC_000008.10:g.145740375C>T
• NG_016430.1:g.7836G>A
• NM_004260.3:c.1565G>A

This HGVS expression did not pass validation

Protein change:

R522H

Links:

dbSNP: rs35842750

NCBI 1000 Genomes Browser:

rs35842750

Molecular consequence:

• NM_004260.4:c.1565G>A - missense variant - [Sequence Ontology: SO:0001583]