U.S. flag

An official website of the United States government

NM_000400.4(ERCC2):c.2191-1G>A AND Trichothiodystrophy 1, photosensitive

Germline classification:
Pathogenic (1 submission)
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:
RCV002292387.1

Allele description [Variation Report for NM_000400.4(ERCC2):c.2191-1G>A]

NM_000400.4(ERCC2):c.2191-1G>A

Gene:
ERCC2:ERCC excision repair 2, TFIIH core complex helicase subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
19q13.32
Genomic location:
Preferred name:
NM_000400.4(ERCC2):c.2191-1G>A
HGVS:
  • NC_000019.10:g.45351722C>T
  • NG_007067.2:g.23866G>A
  • NM_000400.4:c.2191-1G>AMANE SELECT
  • LRG_461:g.23866G>A
  • NC_000019.9:g.45854980C>T
Molecular consequence:
  • NM_000400.4:c.2191-1G>A - splice acceptor variant - [Sequence Ontology: SO:0001574]

Condition(s)

Name:
Trichothiodystrophy 1, photosensitive (TTD1)
Synonyms:
PIBIDS syndrome; TAY SYNDROME; TRICHOTHIODYSTROPHY WITH CONGENITAL ICHTHYOSIS
Identifiers:
MONDO: MONDO:0011125; MedGen: C1866504; Orphanet: 33364; OMIM: 601675

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
SCV002572493Istituto di Genetica Molecolare, National Research Council of Italy
no assertion criteria provided
Pathogenicgermlineresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Istituto di Genetica Molecolare, National Research Council of Italy, SCV002572493.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 10, 2023