U.S. flag

An official website of the United States government

NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter) AND Leber congenital amaurosis

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 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:
RCV001003239.1

Allele description [Variation Report for NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter)]

NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter)

Gene:
TULP1:TUB like protein 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6p21.31
Genomic location:
Preferred name:
NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter)
HGVS:
  • NC_000006.12:g.35500127C>T
  • NG_009077.1:g.17744G>A
  • NM_001289395.2:c.1190G>A
  • NM_003322.6:c.1349G>AMANE SELECT
  • NP_001276324.1:p.Trp397Ter
  • NP_003313.3:p.Trp450Ter
  • NC_000006.11:g.35467904C>T
  • NC_000006.11:g.35467904C>T
  • NM_003322.3:c.1349G>A
Protein change:
W397*
Links:
dbSNP: rs1581736099
NCBI 1000 Genomes Browser:
rs1581736099
Molecular consequence:
  • NM_001289395.2:c.1190G>A - nonsense - [Sequence Ontology: SO:0001587]
  • NM_003322.6:c.1349G>A - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Leber congenital amaurosis (LCA)
Synonyms:
Congenital retinal blindness; Leber's amaurosis
Identifiers:
MONDO: MONDO:0018998; MeSH: D057130; MedGen: C0339527; OMIM: PS204000

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
SCV001161318Sharon lab, Hadassah-Hebrew University Medical Center
no assertion criteria provided
Pathogenic
(Jun 23, 2019) 		inheritedresearch

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedinheritedyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From Sharon lab, Hadassah-Hebrew University Medical Center, SCV001161318.1

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

Last Updated: Sep 29, 2024