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NM_001127217.3(SMAD9):c.-285CGC[7] AND Pulmonary hypertension, primary, 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 14, 2016
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:
RCV000406903.5

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)

Name:
Pulmonary hypertension, primary, 1 (PPH1)
Synonyms:
Pulmonary hypertension, familial primary, 1, with or without HHT
Identifiers:
MONDO: MONDO:0024533; MedGen: C4552070; Orphanet: 422; OMIM: 178600

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000384115Illumina Laboratory Services, Illumina
criteria provided, single submitter

(ICSL Variant Classification 20161018)
Uncertain significance
(Jun 14, 2016)
germlineclinical testing

ICSL_Variant_Classification_20161018.pdf

Citation Link

Last Updated: Dec 28, 2024

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