NM_000344.4(SMN1):c.406C>G (p.Gln136Glu) AND Werdnig-Hoffmann disease

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 13, 2004
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV000009758.3

Allele description [Variation Report for NM_000344.4(SMN1):c.406C>G (p.Gln136Glu)]

NM_000344.4(SMN1):c.406C>G (p.Gln136Glu)

Gene:
SMN1:survival of motor neuron 1, telomeric [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q13.2
Genomic location:
Preferred name:
NM_000344.4(SMN1):c.406C>G (p.Gln136Glu)
HGVS:
  • NC_000005.10:g.70942490C>G
  • NG_008691.1:g.22550C>G
  • NM_000344.4:c.406C>GMANE SELECT
  • NM_001297715.1:c.406C>G
  • NM_022874.2:c.406C>G
  • NP_000335.1:p.Gln136Glu
  • NP_001284644.1:p.Gln136Glu
  • NP_075012.1:p.Gln136Glu
  • LRG_676:g.22550C>G
  • NC_000005.9:g.70238317C>G
  • Q16637:p.Gln136Glu
...more
Protein change:
Q136E; GLN136GLU
Links:
UniProtKB: Q16637#VAR_034808; OMIM: 600354.0018; dbSNP: rs104893934
NCBI 1000 Genomes Browser:
rs104893934
Molecular consequence:
  • NM_000344.4:c.406C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001297715.1:c.406C>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_022874.2:c.406C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Werdnig-Hoffmann disease (SMA1)
Synonyms:
SMA I; Muscular atrophy, infantile; SMA, infantile acute form; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009669; MedGen: C5848259; OMIM: 253300

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000029979OMIM
no assertion criteria provided
Pathogenic
(Jul 13, 2004)
germlineliterature only

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

Last Updated: Jun 23, 2024

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