NM_004738.4(VAPB):c.166C>T (p.Pro56Ser)

NM_004738.4(VAPB):c.166C>T (p.Pro56Ser)

Variant type:
single nucleotide variant
Cytogenetic location:
20q13.3
Genomic location:
  • Chr20:58418318 (on Assembly GRCh38)
  • Chr20:56993374 (on Assembly GRCh37)
Protein change:
P56S
HGVS:
  • NG_008073.2:g.34130C>T
  • NM_004738.4:c.166C>T
  • NC_000020.11:g.58418318C>T (GRCh38)
  • NP_004729.1:p.Pro56Ser
  • NR_036633.1:n.507C>T
  • NC_000020.10:g.56993374C>T (GRCh37)
Links:
NCBI 1000 Genomes Browser:
rs74315431
Molecular consequence:
  • NM_004738.4:c.166C>T: missense variant SO:0001583
  • NR_036633.1:n.507C>T: non-coding transcript variant SO:0001619

Clinical significance

NM_004738.4(VAPB):c.166C>T (p.Pro56Ser)

Clinical significance:
Pathogenic
Review status:
(0/4)0 stars out of maximum of 4 stars
no assertion criteria provided
Number of submission(s):
4
Condition(s)
  • Amyotrophic lateral sclerosis type 8[MedGen - OMIM]
  • Spinal muscular atrophy, late-onset, finkel type[MedGen]
  • Amyotrophic lateral sclerosis, typical
See supporting ClinVar records

1 Affected gene

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Recent activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
Pathogenic
(Jul 26, 2013)
no assertion criteria providedliterature only
  • Amyotrophic lateral sclerosis type 8[MedGen | OMIM]
germlinePubMed (7)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000025249
Pathogenic
(Jul 26, 2013)
no assertion criteria providedliterature only
  • Spinal muscular atrophy, late-onset, finkel type[MedGen]
germlinePubMed (7)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000025250
Pathogenic
(Jul 26, 2013)
no assertion criteria providedliterature only
  • Amyotrophic lateral sclerosis, typical
germlinePubMed (7)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000025251
not providedno assertion providedliterature onlynot providedUniProtKB/Swiss-Prot

(Jun 7, 2012)

SCV000091205
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
Total for all submittersnot providednot providedgermline, not providednot providednot provided
OMIMnot providednot providedgermlinenot providednot providedPubMednot provided
UniProtKB/Swiss-Protnot providednot providednot providednot providednot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
OMIMgermlinenot providedAmyotrophic lateral sclerosis type 8 (not provided)not providednot providedPubMedDe Vos et al. (2012) found that VAPB with the P56S mutation showed significantly higher affinity than wildtype for the outer mitochondrial membrane pr…Full description
OMIMgermlinenot providedAmyotrophic lateral sclerosis, typical (not provided)not providednot providedPubMedDe Vos et al. (2012) found that VAPB with the P56S mutation showed significantly higher affinity than wildtype for the outer mitochondrial membrane pr…Full description
OMIMgermlinenot providedSpinal muscular atrophy, late-onset, finkel type (not provided)not providednot providedPubMedDe Vos et al. (2012) found that VAPB with the P56S mutation showed significantly higher affinity than wildtype for the outer mitochondrial membrane pr…Full description
UniProtKB/Swiss-Protnot providednot providednot provided (not provided)not providednot providednot providednot provided

Last Updated: Jul 1, 2015