NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter) AND Heimler syndrome 1

Clinical significance:Likely pathogenic (Last evaluated: Sep 11, 2015)

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:
RCV000984291.1

Allele description [Variation Report for NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)]

NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)

Genes:
GATAD1:GATA zinc finger domain containing 1 [Gene - OMIM - HGNC]
PEX1:peroxisomal biogenesis factor 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7q21.2
Genomic location:
Preferred name:
NM_000466.3(PEX1):c.2992C>T (p.Arg998Ter)
HGVS:
  • NC_000007.14:g.92494331G>A
  • NG_008341.1:g.39201C>T
  • NG_008341.2:g.39201C>T
  • NM_000466.3:c.2992C>TMANE SELECT
  • NM_001282677.2:c.2821C>T
  • NM_001282678.2:c.2368C>T
  • NP_000457.1:p.Arg998Ter
  • NP_001269606.1:p.Arg941Ter
  • NP_001269607.1:p.Arg790Ter
  • NC_000007.13:g.92123645G>A
  • NM_000466.2:c.2992C>T
Protein change:
R790*
Links:
dbSNP: rs61750428
NCBI 1000 Genomes Browser:
rs61750428
Molecular consequence:
  • NM_000466.3:c.2992C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001282677.2:c.2821C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_001282678.2:c.2368C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Heimler syndrome 1 (HMLR1)
Synonyms:
PEROXISOME BIOGENESIS DISORDER 1C
Identifiers:
MedGen: C4551980; Orphanet: 3220; OMIM: 234580

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001132456Counsylno assertion criteria providedLikely pathogenic
(Sep 11, 2015)
unknownclinical testing

PubMed (3)
[See all records that cite these PMIDs]

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Identification of novel mutations and sequence variation in the Zellweger syndrome spectrum of peroxisome biogenesis disorders.

Yik WY, Steinberg SJ, Moser AB, Moser HW, Hacia JG.

Hum Mutat. 2009 Mar;30(3):E467-80. doi: 10.1002/humu.20932.

PubMed [citation]
PMID:
19105186
PMCID:
PMC2649967

RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Xiong HY, Alipanahi B, Lee LJ, Bretschneider H, Merico D, Yuen RK, Hua Y, Gueroussov S, Najafabadi HS, Hughes TR, Morris Q, Barash Y, Krainer AR, Jojic N, Scherer SW, Blencowe BJ, Frey BJ.

Science. 2015 Jan 9;347(6218):1254806. doi: 10.1126/science.1254806. Epub 2014 Dec 18.

PubMed [citation]
PMID:
25525159
PMCID:
PMC4362528
See all PubMed Citations (3)

Details of each submission

From Counsyl, SCV001132456.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (3)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 8, 2021

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