NM_000466.3(PEX1):c.1A>T (p.Met1Leu) AND Peroxisome biogenesis disorder 1B

Clinical significance:Likely pathogenic (Last evaluated: May 24, 2016)

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:
RCV000409502.1

Allele description [Variation Report for NM_000466.3(PEX1):c.1A>T (p.Met1Leu)]

NM_000466.3(PEX1):c.1A>T (p.Met1Leu)

Gene:
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.1A>T (p.Met1Leu)
HGVS:
  • NC_000007.14:g.92528435T>A
  • NG_008341.1:g.5097A>T
  • NG_008341.2:g.5097A>T
  • NM_000466.3:c.1A>TMANE SELECT
  • NM_001282677.2:c.1A>T
  • NM_001282678.2:c.-659A>T
  • NP_000457.1:p.Met1Leu
  • NP_001269606.1:p.Met1Leu
  • NC_000007.13:g.92157749T>A
  • NM_000466.2:c.1A>T
Protein change:
M1L
Links:
dbSNP: rs1057517501
NCBI 1000 Genomes Browser:
rs1057517501
Molecular consequence:
  • NM_001282678.2:c.-659A>T - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_000466.3:c.1A>T - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_001282677.2:c.1A>T - initiatior codon variant - [Sequence Ontology: SO:0001582]
  • NM_000466.3:c.1A>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001282677.2:c.1A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Peroxisome biogenesis disorder 1B (PBD1B)
Identifiers:
MONDO: MONDO:0011101; MedGen: C0282527; Orphanet: 44; OMIM: 601539

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
SCV000487618Counsylno assertion criteria providedLikely pathogenic
(May 24, 2016)
unknownclinical testing

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000487618.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

Support Center