chr9:107620835:G>A Detail (hg19) (ABCA1)

Information

Genome

Assembly Position
hg19 chr9:107,620,835-107,620,835
hg38 chr9:104,858,554-104,858,554 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_005502.3:c.688C>T NP_005493.2:p.Arg230Cys
Ensemble ENST00000374736.8:c.688C>T ENST00000374736.8:p.Arg230Cys
ENST00000423487.6:c.688C>T ENST00000423487.6:p.Arg230Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 600046 OMIM
HGNC 29 HGNC
Ensembl ENSG00000165029 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM158767 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2023-11-01 criteria provided, multiple submitters, no conflicts Tangier disease germline unknown Detail
Benign 2017-04-28 criteria provided, single submitter Hypoalphalipoproteinemia, primary, 1 germline Detail
Benign 2024-01-29 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2019-03-22 criteria provided, single submitter germline Detail
Benign 2019-03-20 criteria provided, single submitter ABCA1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.366 Hypoalphalipoproteinemia, Familial With these new sequencing primers, we found 3 novel ABCA1 mutations: a frameshif... BeFree 10938021 Detail
0.026 Coronary Arteriosclerosis The ABCA1 gene R230C variant is associated with decreased risk of premature coro... BeFree 23152888 Detail
0.025 Diabetes Mellitus, Non-Insulin-Dependent Association of the ATP-binding cassette transporter A1 R230C variant with early-... BeFree 18003760 Detail
0.044 Coronary heart disease The ABCA1 gene R230C variant is associated with decreased risk of premature coro... BeFree 23152888 Detail
0.025 Diabetes Mellitus, Non-Insulin-Dependent No association was found to the only known Native American-specific gene variant... BeFree 22529894 Detail
0.025 Diabetes Mellitus, Non-Insulin-Dependent The R230C variant of the ATP binding cassette protein A1 (ABCA1) gene is associa... BeFree 23273975 Detail
0.004 obesity The ATP-binding cassette transporter A1 (ABCA1) R230C variant is associated with... BeFree 18003760 Detail
0.126 Metabolic syndrome X The ATP-binding cassette transporter A1 (ABCA1) R230C variant is associated with... BeFree 18003760 Detail
0.008 Dyslipidemias Low plasma high-density lipoprotein cholesterol (HDL-C) levels are the most comm... BeFree 20797885 Detail
0.038 coronary artery disease The ABCA1 gene R230C variant is associated with decreased risk of premature coro... BeFree 23152888 Detail
0.004 obesity The ATP-binding cassette transporter A1 R230C variant affects HDL cholesterol le... BeFree 17287470 Detail
0.340 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.614 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.466 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.055 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.042 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.121 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.090 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
0.025 Diabetes Mellitus, Non-Insulin-Dependent Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (H... BeFree 25839936 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_005502.4(ABCA1):c.688C>T (p.Arg230Cys) AND Tangier disease ClinVar Detail
NM_005502.4(ABCA1):c.688C>T (p.Arg230Cys) AND Hypoalphalipoproteinemia, primary, 1 ClinVar Detail
NM_005502.4(ABCA1):c.688C>T (p.Arg230Cys) AND not provided ClinVar Detail
NM_005502.4(ABCA1):c.688C>T (p.Arg230Cys) AND Cardiovascular phenotype ClinVar Detail
NM_005502.4(ABCA1):c.688C>T (p.Arg230Cys) AND ABCA1-related disorder ClinVar Detail
With these new sequencing primers, we found 3 novel ABCA1 mutations: a frameshift mutation (4570insA... DisGeNET Detail
The ABCA1 gene R230C variant is associated with decreased risk of premature coronary artery disease:... DisGeNET Detail
Association of the ATP-binding cassette transporter A1 R230C variant with early-onset type 2 diabete... DisGeNET Detail
The ABCA1 gene R230C variant is associated with decreased risk of premature coronary artery disease:... DisGeNET Detail
No association was found to the only known Native American-specific gene variant previously associat... DisGeNET Detail
The R230C variant of the ATP binding cassette protein A1 (ABCA1) gene is associated with a decreased... DisGeNET Detail
The ATP-binding cassette transporter A1 (ABCA1) R230C variant is associated with low HDL cholesterol... DisGeNET Detail
The ATP-binding cassette transporter A1 (ABCA1) R230C variant is associated with low HDL cholesterol... DisGeNET Detail
Low plasma high-density lipoprotein cholesterol (HDL-C) levels are the most common dyslipidemia in M... DisGeNET Detail
The ABCA1 gene R230C variant is associated with decreased risk of premature coronary artery disease:... DisGeNET Detail
The ATP-binding cassette transporter A1 R230C variant affects HDL cholesterol levels and BMI in the ... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail
Thus, we aimed to investigate the contribution of rs1111875 (HHEX), rs1800961 (HNF4α), rs5219 (KCNJ1... DisGeNET Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs9282541 dbSNP
Genome
hg19
Position
chr9:107,620,835-107,620,835
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Homozygous Counts in All Race (ExAC)
64
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121412
Allele Counts in All Race (ExAC)
1079
Heterozygous Counts in All Race (ExAC)
951
Allele Frequency in All Race (ExAC)
0.0088870951800481
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