U.S. flag

An official website of the United States government

NM_144643.4(SCLT1):c.1294-1_1294dup AND Orofaciodigital syndrome IX

Germline classification:
Uncertain significance (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:
RCV000735819.1

Allele description [Variation Report for NM_144643.4(SCLT1):c.1294-1_1294dup]

NM_144643.4(SCLT1):c.1294-1_1294dup

Gene:
SCLT1:sodium channel and clathrin linker 1 [Gene - OMIM - HGNC]
Variant type:
Duplication
Cytogenetic location:
4q28.2
Genomic location:
Preferred name:
NM_144643.4(SCLT1):c.1294-1_1294dup
HGVS:
  • NC_000004.12:g.128946153_128946154dup
  • NG_034202.1:g.152455_152456dup
  • NM_144643.4:c.1294-1_1294dupMANE SELECT
  • NC_000004.11:g.129867308_129867309dup
Links:
dbSNP: rs1560875393
NCBI 1000 Genomes Browser:
rs1560875393
Molecular consequence:
  • NM_144643.4:c.1294-1_1294dup - splice acceptor variant - [Sequence Ontology: SO:0001574]
Functional consequence:
loss_of_function_variant [Sequence Ontology: SO:0002054]

Condition(s)

Name:
Orofaciodigital syndrome IX
Synonyms:
OFDS IX; ORAL-FACIAL-DIGITAL SYNDROME, TYPE IX; Orofaciodigital syndrome 9; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009795; MedGen: C0796102; Orphanet: 141007; OMIM: 258865

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
SCV000803672Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology
no assertion criteria provided
Uncertain significancegermlinereference population

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedreference population

Details of each submission

From Laboratory of Molecular Oncology, N.N. Petrov Institute of Oncology, SCV000803672.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedreference populationnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Apr 23, 2022