ClinVar

NM_000489.6(ATRX):c.7111G>A (p.Ala2371Thr)

Gene:

ATRX:ATRX chromatin remodeler [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq21.1

Genomic location:

• ChrX: 77520877 (on Assembly GRCh38)
• ChrX: 76776355 (on Assembly GRCh37)

Preferred name:

NM_000489.6(ATRX):c.7111G>A (p.Ala2371Thr)

HGVS:

• NC_000023.11:g.77520877C>T
• NG_008838.3:g.270393G>A
• NM_000489.6:c.7111G>AMANE SELECT
• NM_138270.5:c.6997G>A
• NP_000480.3:p.Ala2371Thr
• NP_612114.2:p.Ala2333Thr
• LRG_1153:g.270393G>A
• NC_000023.10:g.76776355C>T
• NM_000489.3:c.7111G>A

This HGVS expression did not pass validation

Protein change:

A2333T

Links:

dbSNP: rs147341551

NCBI 1000 Genomes Browser:

rs147341551

Molecular consequence:

• NM_000489.6:c.7111G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_138270.5:c.6997G>A - missense variant - [Sequence Ontology: SO:0001583]