ClinVar

NM_015474.4(SAMHD1):c.541G>A (p.Ala181Thr)

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: 36930844 (on Assembly GRCh38)
• Chr20: 35559247 (on Assembly GRCh37)

Preferred name:

NM_015474.4(SAMHD1):c.541G>A (p.Ala181Thr)

HGVS:

• NC_000020.11:g.36930844C>T
• NG_017059.1:g.26000G>A
• NM_001363729.2:c.541G>A
• NM_001363733.2:c.541G>A
• NM_015474.4:c.541G>AMANE SELECT
• NP_001350658.1:p.Ala181Thr
• NP_001350662.1:p.Ala181Thr
• NP_056289.2:p.Ala181Thr
• NP_056289.2:p.Ala181Thr
• LRG_281t1:c.541G>A
• LRG_281:g.26000G>A
• LRG_281p1:p.Ala181Thr
• NC_000020.10:g.35559247C>T
• NM_015474.3:c.541G>A

This HGVS expression did not pass validation

Protein change:

A181T

Links:

dbSNP: rs1455837248

NCBI 1000 Genomes Browser:

rs1455837248

Molecular consequence:

• NM_001363729.2:c.541G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363733.2:c.541G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015474.4:c.541G>A - missense variant - [Sequence Ontology: SO:0001583]