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NM_001134831.2(AHI1):c.2687A>G (p.His896Arg) AND Joubert syndrome 3

Clinical significance:Pathogenic (Last evaluated: Feb 23, 2015)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

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Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000201566.1

Allele description [Variation Report for NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)]

NM_001134831.2(AHI1):c.2687A>G (p.His896Arg)

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.2687A>G (p.His896Arg)
HGVS:
  • NC_000006.12:g.135427244T>C
  • NG_008643.2:g.75522A>G
  • NM_001134830.2:c.2687A>G
  • NM_001134831.2:c.2687A>GMANE SELECT
  • NM_001134832.2:c.2687A>G
  • NM_001350503.2:c.2687A>G
  • NM_001350504.2:c.2687A>G
  • NM_017651.5:c.2687A>G
  • NP_001128302.1:p.His896Arg
  • NP_001128303.1:p.His896Arg
  • NP_001128304.1:p.His896Arg
  • NP_001337432.1:p.His896Arg
  • NP_001337433.1:p.His896Arg
  • NP_060121.3:p.His896Arg
  • NP_060121.3:p.His896Arg
  • NC_000006.11:g.135748382T>C
  • NM_001134831.1:c.2687A>G
  • NM_017651.4:c.2687A>G
  • Q8N157:p.His896Arg
Protein change:
H896R
Links:
UniProtKB: Q8N157#VAR_076822; dbSNP: rs863225135
NCBI 1000 Genomes Browser:
rs863225135
Molecular consequence:
  • NM_001134830.2:c.2687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134831.2:c.2687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001134832.2:c.2687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350503.2:c.2687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001350504.2:c.2687A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017651.5:c.2687A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Joubert syndrome 3 (JBTS3)
Synonyms:
Joubert syndrome with ocular anomalies; AHI1-related Ciliopathy
Identifiers:
MONDO: MONDO:0012078; MedGen: C1837713; Orphanet: 220493; OMIM: 608629

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000256257UW Hindbrain Malformation Research Program,University of Washington

See additional submitters

criteria provided, single submitter
Pathogenic
(Feb 23, 2015) 		unknownresearch

PubMed (1)
[See all records that cite this PMID]

Summary from all submissions

Help
EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedresearch

Citations

PubMed

Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity.

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, et al.

J Med Genet. 2015 Aug;52(8):514-22. doi: 10.1136/jmedgenet-2015-103087. Epub 2015 Jun 19.

PubMed [citation]
PMID:
26092869
PMCID:
PMC5082428

Details of each submission

From UW Hindbrain Malformation Research Program,University of Washington, SCV000256257.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedresearch PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Feb 13, 2023