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NM_004606.5(TAF1):c.4130G>A (p.Arg1377Gln) AND Intellectual disability, X-linked, syndromic 33

Germline classification:
Uncertain significance (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:
RCV001027757.2

Allele description [Variation Report for NM_004606.5(TAF1):c.4130G>A (p.Arg1377Gln)]

NM_004606.5(TAF1):c.4130G>A (p.Arg1377Gln)

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.4130G>A (p.Arg1377Gln)
HGVS:
  • NC_000023.11:g.71407596G>A
  • NG_012771.2:g.46333G>A
  • NM_001286074.2:c.4130G>A
  • NM_004606.5:c.4130G>AMANE SELECT
  • NM_138923.4:c.4067G>A
  • NP_001273003.2:p.Arg1377Gln
  • NP_004597.2:p.Arg1397Gln
  • NP_004597.3:p.Arg1377Gln
  • NP_620278.2:p.Arg1356Gln
  • NC_000023.10:g.70627446G>A
  • NM_004606.3:c.4190G>A
  • NM_004606.4:c.4190G>A
  • NR_104387.2:n.4148G>A
  • NR_104388.2:n.4148G>A
  • NR_104389.2:n.4148G>A
  • NR_104390.2:n.4148G>A
  • NR_104391.2:n.4148G>A
  • NR_104392.2:n.4148G>A
  • NR_104393.2:n.4148G>A
  • NR_104394.2:n.4148G>A
  • NR_104395.2:n.4148G>A
Protein change:
R1356Q
Links:
dbSNP: rs748747814
NCBI 1000 Genomes Browser:
rs748747814
Molecular consequence:
  • NM_001286074.2:c.4130G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_004606.5:c.4130G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_138923.4:c.4067G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_104387.2:n.4148G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104388.2:n.4148G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104389.2:n.4148G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104390.2:n.4148G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104391.2:n.4148G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104392.2:n.4148G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104393.2:n.4148G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104394.2:n.4148G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_104395.2:n.4148G>A - 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

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000998775Genome Medicine, Institute for Basic Research in Developmental Disabilities
no assertion criteria provided
Uncertain significance
(Sep 23, 2019) 		maternalclinical testing

Help

Summary from all submissions

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

Details of each submission

From Genome Medicine, Institute for Basic Research in Developmental Disabilities, SCV000998775.1

#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: Oct 21, 2023