chr1:159174683:T>C Detail (hg19) (ACKR1)

Information

Genome

Assembly Position
hg19 chr1:159,174,683-159,174,683
hg38 chr1:159,204,893-159,204,893 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001122951.2:c.-111T>C
NM_002036.3:c.-67T>C
Ensemble ENST00000368121.6:c.-111T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic; association; protective
Review star
Show details
Links
Type Database ID Link
Gene MIM 613665 OMIM
HGNC 4035 HGNC
Ensembl ENSG00000213088 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2010-01-01 no assertion criteria provided germline Detail
protective 2017-12-11 no assertion criteria provided Resistance to Plasmodium vivax infection germline Detail
association 2010-01-01 no assertion criteria provided White blood cell count quantitative trait locus 1 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 White blood cell count quantitative trait locus 1 NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_002036.3(ACKR1):c.-67T>C AND DUFFY BLOOD GROUP SYSTEM, FY(a-b-) PHENOTYPE ClinVar Detail
NM_002036.3(ACKR1):c.-67T>C AND Resistance to Plasmodium vivax infection ClinVar Detail
NM_002036.3(ACKR1):c.-67T>C AND White blood cell count quantitative trait locus 1 ClinVar Detail
NA 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
rs2814778 dbSNP
Genome
hg19
Position
chr1:159,174,683-159,174,683
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser