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NM_000489.5(ATRX):c.568C>G (p.Pro190Ala) AND Alpha thalassemia-X-linked intellectual disability syndrome

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 1, 1997
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000012500.23

Allele description

NM_000489.5(ATRX):c.568C>G (p.Pro190Ala)

Gene:
ATRX:ATRX chromatin remodeler [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq21.1
Genomic location:
Preferred name:
NM_000489.5(ATRX):c.568C>G (p.Pro190Ala)
Other names:
P73A
HGVS:
  • NC_000023.11:g.77688844G>C
  • NG_008838.3:g.102426C>G
  • NM_000489.5:c.568C>G
  • NM_138270.4:c.454C>G
  • NP_000480.3:p.Pro190Ala
  • NP_612114.2:p.Pro152Ala
  • LRG_1153t1:c.568C>G
  • LRG_1153:g.102426C>G
  • LRG_1153p1:p.Pro190Ala
  • NC_000023.10:g.76944337G>C
  • NM_000489.3:c.568C>G
Protein change:
P152A; PRO73ALA
Links:
OMIM: 300032.0014; dbSNP: rs122445103
NCBI 1000 Genomes Browser:
rs122445103
Molecular consequence:
  • NM_000489.5:c.568C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138270.4:c.454C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Alpha thalassemia-X-linked intellectual disability syndrome (ATRX)
Synonyms:
ALPHA-THALASSEMIA/MENTAL RETARDATION SYNDROME, X-LINKED; ATR-X syndrome; Alpha thalassemia mental retardation syndrome, nondeletion type, X-linked; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010519; MedGen: C1845055; Orphanet: 847; OMIM: 301040

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000032734OMIM
no assertion criteria provided
Pathogenic
(Oct 1, 1997) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain.

Gibbons RJ, Bachoo S, Picketts DJ, Aftimos S, Asenbauer B, Bergoffen J, Berry SA, Dahl N, Fryer A, Keppler K, Kurosawa K, Levin ML, Masuno M, Neri G, Pierpont ME, Slaney SF, Higgs DR.

Nat Genet. 1997 Oct;17(2):146-8. No abstract available.

PubMed [citation]
PMID:
9326931

Details of each submission

From OMIM, SCV000032734.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a patient with ATR-X syndrome (301040), Gibbons et al. (1997) identified a 901C-G transversion in the XH2 gene, resulting in a pro73-to-ala (P73A) substitution.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 7, 2021