NM_003322.6(TULP1):c.349G>A (p.Glu117Lys) AND Retinitis pigmentosa

Clinical significance:Likely pathogenic

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000132650.1

Allele description [Variation Report for NM_003322.6(TULP1):c.349G>A (p.Glu117Lys)]

NM_003322.6(TULP1):c.349G>A (p.Glu117Lys)

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.349G>A (p.Glu117Lys)
HGVS:
  • NC_000006.12:g.35511648C>T
  • NG_009077.1:g.6223G>A
  • NM_001289395.2:c.190+532G>A
  • NM_003322.6:c.349G>AMANE SELECT
  • NP_003313.3:p.Glu117Lys
  • NC_000006.11:g.35479425C>T
  • NM_003322.3:c.349G>A
  • NM_003322.4:c.349G>A
Protein change:
E117K
Links:
dbSNP: rs527236117
NCBI 1000 Genomes Browser:
rs527236117
Molecular consequence:
  • NM_001289395.2:c.190+532G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_003322.6:c.349G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration; Retinotapetal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000; Human Phenotype Ontology: HP:0000547

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000172601Department of Ophthalmology and Visual Sciences Kyoto Universityno assertion criteria providedprobable-pathogenicnot providednot provided

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Department of Ophthalmology and Visual Sciences Kyoto University, SCV000172601.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to Likely pathogenic.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

Support Center