U.S. flag

An official website of the United States government

NM_000489.6(ATRX):c.1916T>G (p.Leu639Trp) AND multiple conditions

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 14, 2020
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:
RCV001270425.2

Allele description [Variation Report for NM_000489.6(ATRX):c.1916T>G (p.Leu639Trp)]

NM_000489.6(ATRX):c.1916T>G (p.Leu639Trp)

Gene:
ATRX:ATRX chromatin remodeler [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq21.1
Genomic location:
Preferred name:
NM_000489.6(ATRX):c.1916T>G (p.Leu639Trp)
HGVS:
  • NC_000023.11:g.77683340A>C
  • NG_008838.3:g.107930T>G
  • NM_000489.6:c.1916T>GMANE SELECT
  • NM_138270.5:c.1802T>G
  • NP_000480.3:p.Leu639Trp
  • NP_612114.2:p.Leu601Trp
  • LRG_1153t1:c.1916T>G
  • LRG_1153:g.107930T>G
  • NC_000023.10:g.76938832A>C
  • NM_000489.5:c.1916T>G
Protein change:
L601W
Links:
Molecular consequence:
  • NM_000489.6:c.1916T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138270.5:c.1802T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Acquired hemoglobin H disease (ATMDS)
Synonyms:
Alpha-thalassemia myelodysplasia syndrome, somatic; Alpha-thalassemia-myelodysplastic syndrome; Alpha-thalassemia myelodysplasia syndrome
Identifiers:
MONDO: MONDO:0010328; MedGen: C0585216; Orphanet: 231401; OMIM: 300448
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
Name:
Intellectual disability-hypotonic facies syndrome, X-linked, 1
Synonyms:
XLMR-HYPOTONIC FACIES SYNDROME; Mental retardation-hypotonic facies syndrome X-linked, 1; Smith Fineman Myers syndrome 1; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010663; MedGen: C4759781; Orphanet: 73220; Orphanet: 93970; Orphanet: 93971; Orphanet: 93972; Orphanet: 93973; Orphanet: 93974; Orphanet: 93975; OMIM: 309580

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001450714Service de Génétique Moléculaire, Hôpital Robert Debré
no assertion criteria provided
Uncertain significance
(Apr 14, 2020) 		maternalclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Service de Génétique Moléculaire, Hôpital Robert Debré, SCV001450714.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024