chr11:5248232:T>G Detail (hg19) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,248,232-5,248,232
hg38 chr11:5,227,002-5,227,002 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.20A>C NP_000509.1:p.Glu7Ala
Ensemble ENST00000485743.1:c.20A>C ENST00000485743.1:p.Glu7Ala
ENST00000335295.4:c.20A>C ENST00000335295.4:p.Glu7Ala
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 141900 OMIM
HGNC 4827 HGNC
Ensembl ENSG00000244734 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
other 2017-12-12 no assertion criteria provided germline Detail
Likely benign 2023-05-08 criteria provided, single submitter not specified germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 anemia Meanwhile, individuals with the hHbS rs334 TT, IL10 rs3024500 AA, and IL17RD rs6... BeFree 24312262 Detail
<0.001 Sickle Cell Trait The objective was to investigate whether haptoglobin (Hp) haplotypes constructed... BeFree 20552021 Detail
0.120 Sickle cell-Hemoglobin O Arab disease NA CLINVAR Detail
0.120 Malaria, resistance to NA CLINVAR Detail
<0.001 anemia Furthermore, IL17RE rs708567 GA and hHbS rs334 AT individuals were associated wi... BeFree 24312262 Detail
<0.001 Sickle Cell Trait The objective was to investigate whether haptoglobin (Hp) haplotypes constructed... BeFree 20552021 Detail
0.578 Anemia, Sickle Cell NA CLINVAR Detail
<0.001 malaria Furthermore, IL17RE rs708567 GA and hHbS rs334 AT individuals were associated wi... BeFree 24312262 Detail
0.578 Anemia, Sickle Cell Gene mutations in human haemoglobin: the chemical difference between normal and ... UNIPROT 13464827 Detail
<0.001 trachoma The objective was to investigate whether haptoglobin (Hp) haplotypes constructed... BeFree 20552021 Detail
0.099 anemia Hb S-São Paulo (SP) [HBB:c.20A&gt;T p.Glu6Val; c.196A&gt;G p.Lys65Glu] is a new ... BeFree 22244832 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000518.4(HBB):c.20A>C (p.Glu7Ala) AND HEMOGLOBIN G (MAKASSAR) ClinVar Detail
NM_000518.4(HBB):c.20A>C (p.Glu7Ala) AND not specified ClinVar Detail
Meanwhile, individuals with the hHbS rs334 TT, IL10 rs3024500 AA, and IL17RD rs6780995 GA genotypes ... DisGeNET Detail
The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional... DisGeNET Detail
NA DisGeNET Detail
NA DisGeNET Detail
Furthermore, IL17RE rs708567 GA and hHbS rs334 AT individuals were associated with protection from u... DisGeNET Detail
The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional... DisGeNET Detail
NA DisGeNET Detail
Furthermore, IL17RE rs708567 GA and hHbS rs334 AT individuals were associated with protection from u... DisGeNET Detail
Gene mutations in human haemoglobin: the chemical difference between normal and sickle cell haemoglo... DisGeNET Detail
The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional... DisGeNET Detail
Hb S-São Paulo (SP) [HBB:c.20A&gt;T p.Glu6Val; c.196A&gt;G p.Lys65Glu] is a new double-mutant hemogl... 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
rs334 dbSNP
Genome
hg19
Position
chr11:5,248,232-5,248,232
Variant Type
snv
Reference Allele
T
Alternative Allele
G
Genome browser