ClinVar

NM_000489.6(ATRX):c.7435A>G (p.Met2479Val)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq21.1

Genomic location:

• ChrX: 77508395 (on Assembly GRCh38)
• ChrX: 76763873 (on Assembly GRCh37)

Preferred name:

NM_000489.6(ATRX):c.7435A>G (p.Met2479Val)

HGVS:

• NC_000023.11:g.77508395T>C
• NG_008838.3:g.282875A>G
• NM_000489.6:c.7435A>GMANE SELECT
• NM_138270.5:c.7321A>G
• NP_000480.3:p.Met2479Val
• NP_000480.3:p.Met2479Val
• NP_612114.2:p.Met2441Val
• LRG_1153t1:c.7435A>G
• LRG_1153:g.282875A>G
• LRG_1153p1:p.Met2479Val
• NC_000023.10:g.76763873T>C
• NM_000489.4:c.7435A>G
• NM_000489.5:c.7435A>G

This HGVS expression did not pass validation

Protein change:

M2441V

Links:

dbSNP: rs200478641

NCBI 1000 Genomes Browser:

rs200478641

Molecular consequence:

• NM_000489.6:c.7435A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_138270.5:c.7321A>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1