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NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter) AND Retinitis pigmentosa

Clinical significance:Pathogenic (Last evaluated: Jun 23, 2019)

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:
RCV001002863.1

Allele description [Variation Report for NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)]

NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)

Gene:
AHI1:Abelson helper integration site 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
6q23.3
Genomic location:
Preferred name:
NM_001134831.2(AHI1):c.2212C>T (p.Arg738Ter)
HGVS:
  • NC_000006.12:g.135433081G>A
  • NG_008643.2:g.69685C>T
  • NM_001134830.2:c.2212C>T
  • NM_001134831.2:c.2212C>TMANE SELECT
  • NM_001134832.2:c.2212C>T
  • NM_001350503.2:c.2212C>T
  • NM_001350504.2:c.2212C>T
  • NM_017651.5:c.2212C>T
  • NP_001128302.1:p.Arg738Ter
  • NP_001128302.1:p.Arg738Ter
  • NP_001128303.1:p.Arg738Ter
  • NP_001128304.1:p.Arg738Ter
  • NP_001337432.1:p.Arg738Ter
  • NP_001337433.1:p.Arg738Ter
  • NP_060121.3:p.Arg738Ter
  • NP_060121.3:p.Arg738Ter
  • NC_000006.11:g.135754219G>A
  • NM_001134830.1:c.2212C>T
  • NM_001134831.1:c.2212C>T
  • NM_017651.4:c.2212C>T
Protein change:
R738*
Links:
dbSNP: rs372659908
NCBI 1000 Genomes Browser:
rs372659908
Molecular consequence:
  • NM_001134830.2:c.2212C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001134831.2:c.2212C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001134832.2:c.2212C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350503.2:c.2212C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001350504.2:c.2212C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_017651.5:c.2212C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Retinitis pigmentosa (RP)
Synonyms:
Tapetoretinal degeneration
Identifiers:
MONDO: MONDO:0019200; MeSH: D012174; MedGen: C0035334; Orphanet: 791; OMIM: 268000; OMIM: PS268000

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001160890Sharon lab,Hadassah-Hebrew University Medical Centerno assertion criteria providedPathogenic
(Jun 23, 2019)
inheritedresearch

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, SCV001160890.1

#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 10, 2022

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