ClinVar

NM_000489.6(ATRX):c.7394del (p.Gly2465fs)

Gene:

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

Variant type:

Deletion

Cytogenetic location:

Xq21.1

Genomic location:

• ChrX: 77508436 (on Assembly GRCh38)
• ChrX: 76763914 (on Assembly GRCh37)

Preferred name:

NM_000489.6(ATRX):c.7394del (p.Gly2465fs)

HGVS:

• NC_000023.11:g.77508437del
• NG_008838.3:g.282834del
• NM_000489.6:c.7394delMANE SELECT
• NM_138270.5:c.7280del
• NP_000480.3:p.Gly2465fs
• NP_612114.2:p.Gly2427fs
• LRG_1153:g.282834del
• NC_000023.10:g.76763915del
• NM_000489.3:c.7394delG

This HGVS expression did not pass validation

Protein change:

G2427fs

Links:

dbSNP: rs398123428

NCBI 1000 Genomes Browser:

rs398123428

Molecular consequence:

• NM_000489.6:c.7394del - frameshift variant - [Sequence Ontology: SO:0001589]
• NM_138270.5:c.7280del - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

2