U.S. flag

An official website of the United States government

NM_004606.5(TAF1):c.2894C>T (p.Ser965Phe) AND Intellectual disability, X-linked, syndromic 33

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Sep 23, 2019
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:
RCV001027752.2

Allele description [Variation Report for NM_004606.5(TAF1):c.2894C>T (p.Ser965Phe)]

NM_004606.5(TAF1):c.2894C>T (p.Ser965Phe)

Gene:
TAF1:TATA-box binding protein associated factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq13.1
Genomic location:
Preferred name:
NM_004606.5(TAF1):c.2894C>T (p.Ser965Phe)
HGVS:
  • NC_000023.11:g.71392681C>T
  • NG_012771.2:g.31418C>T
  • NM_001286074.2:c.2894C>T
  • NM_004606.5:c.2894C>TMANE SELECT
  • NM_138923.4:c.2831C>T
  • NP_001273003.2:p.Ser965Phe
  • NP_004597.2:p.Ser985Phe
  • NP_004597.3:p.Ser965Phe
  • NP_620278.2:p.Ser944Phe
  • NC_000023.10:g.70612531C>T
  • NM_004606.3:c.2954C>T
  • NM_004606.4:c.2954C>T
  • NR_104387.2:n.2912C>T
  • NR_104388.2:n.2912C>T
  • NR_104389.2:n.2912C>T
  • NR_104390.2:n.2912C>T
  • NR_104391.2:n.2912C>T
  • NR_104392.2:n.2912C>T
  • NR_104393.2:n.2912C>T
  • NR_104394.2:n.2912C>T
  • NR_104395.2:n.2912C>T
Protein change:
S944F
Links:
dbSNP: rs1057518019
NCBI 1000 Genomes Browser:
rs1057518019
Molecular consequence:
  • NM_001286074.2:c.2894C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004606.5:c.2894C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138923.4:c.2831C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104387.2:n.2912C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104388.2:n.2912C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104389.2:n.2912C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104390.2:n.2912C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104391.2:n.2912C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104392.2:n.2912C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104393.2:n.2912C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104394.2:n.2912C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104395.2:n.2912C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Intellectual disability, X-linked, syndromic 33 (MRXS33)
Synonyms:
INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33
Identifiers:
MONDO: MONDO:0010500; MedGen: C4225418; OMIM: 300966

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
SCV000998769Genome Medicine, Institute for Basic Research in Developmental Disabilities
no assertion criteria provided
Likely pathogenic
(Sep 23, 2019) 		de novoclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Genome Medicine, Institute for Basic Research in Developmental Disabilities, SCV000998769.1

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

Last Updated: Oct 21, 2023