ClinVar

NM_000489.6(ATRX):c.3555G>C (p.Lys1185Asn)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

Xq21.1

Genomic location:

• ChrX: 77681701 (on Assembly GRCh38)
• ChrX: 76937193 (on Assembly GRCh37)

Preferred name:

NM_000489.6(ATRX):c.3555G>C (p.Lys1185Asn)

HGVS:

• NC_000023.11:g.77681701C>G
• NG_008838.3:g.109569G>C
• NM_000489.6:c.3555G>CMANE SELECT
• NM_138270.5:c.3441G>C
• NP_000480.3:p.Lys1185Asn
• NP_000480.3:p.Lys1185Asn
• NP_612114.2:p.Lys1147Asn
• LRG_1153t1:c.3555G>C
• LRG_1153:g.109569G>C
• LRG_1153p1:p.Lys1185Asn
• NC_000023.10:g.76937193C>G
• NM_000489.3:c.3555G>C
• NM_000489.5:c.3555G>C

This HGVS expression did not pass validation

Protein change:

K1147N

Links:

dbSNP: rs782696086

NCBI 1000 Genomes Browser:

rs782696086

Molecular consequence:

• NM_000489.6:c.3555G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_138270.5:c.3441G>C - missense variant - [Sequence Ontology: SO:0001583]

Observations:

2