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NM_001927.4(DES):c.347A>G (p.Asn116Ser) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000056799.10

Allele description [Variation Report for NM_001927.4(DES):c.347A>G (p.Asn116Ser)]

NM_001927.4(DES):c.347A>G (p.Asn116Ser)

Gene:
DES:desmin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q35
Genomic location:
Preferred name:
NM_001927.4(DES):c.347A>G (p.Asn116Ser)
HGVS:
  • NC_000002.12:g.219418809A>G
  • NG_008043.1:g.5433A>G
  • NM_001927.4:c.347A>GMANE SELECT
  • NP_001918.3:p.Asn116Ser
  • LRG_380t1:c.347A>G
  • LRG_380:g.5433A>G
  • NC_000002.11:g.220283531A>G
  • NM_001927.3:c.347A>G
  • P17661:p.Asn116Ser
Protein change:
N116S
Links:
UniProtKB: P17661#VAR_069191; dbSNP: rs267607499
NCBI 1000 Genomes Browser:
rs267607499
Molecular consequence:
  • NM_001927.4:c.347A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000087912Epithelial Biology; Institute of Medical Biology, Singapore
no classification provided
not providednot providednot provided

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Epithelial Biology; Institute of Medical Biology, Singapore, SCV000087912.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Nov 3, 2024