ClinVar

NM_015474.4(SAMHD1):c.998G>A (p.Arg333His)

Gene:

SAMHD1:SAM and HD domain containing deoxynucleoside triphosphate triphosphohydrolase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q11.23

Genomic location:

• Chr20: 36916786 (on Assembly GRCh38)
• Chr20: 35545189 (on Assembly GRCh37)

Preferred name:

NM_015474.4(SAMHD1):c.998G>A (p.Arg333His)

HGVS:

• NC_000020.11:g.36916786C>T
• NG_017059.1:g.40058G>A
• NM_001363729.2:c.998G>A
• NM_001363733.2:c.998G>A
• NM_015474.4:c.998G>AMANE SELECT
• NP_001350658.1:p.Arg333His
• NP_001350662.1:p.Arg333His
• NP_056289.2:p.Arg333His
• LRG_281t1:c.998G>A
• LRG_281:g.40058G>A
• NC_000020.10:g.35545189C>T
• NM_015474.3:c.998G>A

This HGVS expression did not pass validation

Protein change:

R333H

Links:

dbSNP: rs755046462

NCBI 1000 Genomes Browser:

rs755046462

Molecular consequence:

• NM_001363729.2:c.998G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363733.2:c.998G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015474.4:c.998G>A - missense variant - [Sequence Ontology: SO:0001583]