U.S. flag

An official website of the United States government

NM_022436.3(ABCG5):c.914C>G (p.Thr305Arg) AND Sitosterolemia 1

Germline classification:
Pathogenic (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria 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:
RCV002245972.11

Allele description [Variation Report for NM_022436.3(ABCG5):c.914C>G (p.Thr305Arg)]

NM_022436.3(ABCG5):c.914C>G (p.Thr305Arg)

Genes:
ABCG5:ATP binding cassette subfamily G member 5 [Gene - OMIM - HGNC]
DYNC2LI1:dynein cytoplasmic 2 light intermediate chain 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_022436.3(ABCG5):c.914C>G (p.Thr305Arg)
HGVS:
  • NC_000002.12:g.43824423G>C
  • NG_008883.1:g.19397C>G
  • NG_053008.1:g.55385G>C
  • NM_001348912.2:c.*16-2963G>C
  • NM_001348913.2:c.*16-2963G>C
  • NM_022436.3:c.914C>GMANE SELECT
  • NP_071881.1:p.Thr305Arg
  • LRG_1181t1:c.914C>G
  • LRG_1181:g.19397C>G
  • LRG_1181p1:p.Thr305Arg
  • NC_000002.11:g.44051562G>C
Protein change:
T305R
Links:
dbSNP: rs143740796
NCBI 1000 Genomes Browser:
rs143740796
Molecular consequence:
  • NM_001348912.2:c.*16-2963G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001348913.2:c.*16-2963G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_022436.3:c.914C>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Sitosterolemia 1
Identifiers:
MONDO: MONDO:0020747; MedGen: C2749759; OMIM: 210250

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV002515650ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology
no assertion criteria provided
Pathogenicgermlineresearch

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedresearch

Details of each submission

From ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology, SCV002515650.1

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

Last Updated: Jul 7, 2024