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NM_001127217.3(SMAD9):c.-285CGC[7] AND not provided

Germline classification:
Uncertain significance (1 submission)
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:
RCV004693151.1

Allele description [Variation Report for NM_001127217.3(SMAD9):c.-285CGC[7]]

NM_001127217.3(SMAD9):c.-285CGC[7]

Genes:
LOC130009576:ATAC-STARR-seq lymphoblastoid silent region 5268 [Gene]
SMAD9:SMAD family member 9 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
13q13.3
Genomic location:
Preferred name:
NM_001127217.3(SMAD9):c.-285CGC[7]
HGVS:
  • NC_000013.11:g.36920190GGC[7]
  • NG_016963.1:g.5059CGC[7]
  • NM_001127217.3:c.-285CGC[7]MANE SELECT
  • NM_005905.6:c.-285CGC[7]
  • LRG_703:g.5059CGC[7]
  • NC_000013.10:g.37494327GGC[7]
  • NM_001127217.2:c.-264_-259delCGCCGC
...more
Links:
dbSNP: rs770040180
NCBI 1000 Genomes Browser:
rs770040180
Molecular consequence:
  • NM_001127217.3:c.-285CGC[7] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_005905.6:c.-285CGC[7] - 5 prime UTR variant - [Sequence Ontology: SO:0001623]

Condition(s)

Synonyms:
none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV005192129Breakthrough Genomics, Breakthrough Genomics
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significancegermlinenot provided

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

Last Updated: Dec 28, 2024

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