NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu) AND PI Z(WREXHAM)

Clinical significance:other (Last evaluated: Jul 15, 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:
RCV000019570.2

Allele description [Variation Report for NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu)]

NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu)

Gene:
SERPINA1:serpin family A member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.13
Genomic location:
Preferred name:
NM_001127701.1(SERPINA1):c.17C>T (p.Ser6Leu)
HGVS:
  • NC_000014.9:g.94383221G>A
  • NG_008290.1:g.12472C>T
  • NM_000295.5:c.17C>TMANE SELECT
  • NM_001002235.3:c.17C>T
  • NM_001002236.3:c.17C>T
  • NM_001127700.2:c.17C>T
  • NM_001127701.2:c.17C>T
  • NM_001127702.2:c.17C>T
  • NM_001127703.2:c.17C>T
  • NM_001127704.2:c.17C>T
  • NM_001127705.2:c.17C>T
  • NM_001127706.2:c.17C>T
  • NM_001127707.2:c.17C>T
  • NP_000286.3:p.Ser6Leu
  • NP_001002235.1:p.Ser6Leu
  • NP_001002236.1:p.Ser6Leu
  • NP_001121172.1:p.Ser6Leu
  • NP_001121172.1:p.Ser6Leu
  • NP_001121173.1:p.Ser6Leu
  • NP_001121174.1:p.Ser6Leu
  • NP_001121175.1:p.Ser6Leu
  • NP_001121176.1:p.Ser6Leu
  • NP_001121177.1:p.Ser6Leu
  • NP_001121178.1:p.Ser6Leu
  • NP_001121179.1:p.Ser6Leu
  • LRG_575t1:c.17C>T
  • LRG_575:g.12472C>T
  • LRG_575p1:p.Ser6Leu
  • NC_000014.8:g.94849558G>A
  • NM_000295.4:c.17C>T
  • NM_001127700.1:c.17C>T
Protein change:
S6L
Links:
OMIM: 107400.0032; dbSNP: rs140814100
NCBI 1000 Genomes Browser:
rs140814100
Molecular consequence:
  • NM_000295.5:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002235.3:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002236.3:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127700.2:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127701.2:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127702.2:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127703.2:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127704.2:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127705.2:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127706.2:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127707.2:c.17C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
PI Z(WREXHAM)
Identifiers:

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000039867OMIMno assertion criteria providedother
(Jul 15, 2016)
germlineliterature only

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

Summary from all submissions

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

Citations

PubMed

Characterisation of the alpha-1-antitrypsin M3 gene, a normal variant.

Graham A, Hayes K, Weidinger S, Newton CR, Markham AF, Kalsheker NA.

Hum Genet. 1990 Aug;85(3):381-2.

PubMed [citation]
PMID:
2394452

Details of each submission

From OMIM, SCV000039867.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a compound heterozygote with the common disease-producing PI Z mutation (107400.0011), Graham et al. (1990) found a change from TCG to TTG in codon -19, which resulted in a change from serine to leucine in the signal peptide.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 18, 2021

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