chr11:5247917:G>A Detail (hg19) (HBB, LOC106099062, LOC107133510)

Information

Genome

Assembly Position
hg19 chr11:5,247,917-5,247,917
hg38 chr11:5,226,687-5,226,687 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000518.4:c.205C>T NP_000509.1:p.Leu69Phe
Ensemble ENST00000335295.4:c.205C>T ENST00000335295.4:p.Leu69Phe
ENST00000485743.1:c.205C>T ENST00000485743.1:p.Leu69Phe
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
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
other 2017-12-12 no assertion criteria provided germline Detail
Pathogenic 2022-10-31 criteria provided, single submitter not provided germline Detail
Likely pathogenic 2021-07-06 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,Beta-thalassemia HBB/LCRB,Dominant beta-thalassemia,Methemoglobinemia, beta-globin type,alpha thalassemia,Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Heinz body anemia unknown Detail
Likely pathogenic 2021-07-06 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,Beta-thalassemia HBB/LCRB,Dominant beta-thalassemia,Methemoglobinemia, beta-globin type,alpha thalassemia,Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Heinz body anemia unknown Detail
Likely pathogenic 2021-07-06 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,Beta-thalassemia HBB/LCRB,Dominant beta-thalassemia,Methemoglobinemia, beta-globin type,alpha thalassemia,Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Heinz body anemia unknown Detail
Likely pathogenic 2021-07-06 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,Beta-thalassemia HBB/LCRB,Dominant beta-thalassemia,Methemoglobinemia, beta-globin type,alpha thalassemia,Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Heinz body anemia unknown Detail
Likely pathogenic 2021-07-06 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,Beta-thalassemia HBB/LCRB,Dominant beta-thalassemia,Methemoglobinemia, beta-globin type,alpha thalassemia,Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Heinz body anemia unknown Detail
Likely pathogenic 2021-07-06 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,Beta-thalassemia HBB/LCRB,Dominant beta-thalassemia,Methemoglobinemia, beta-globin type,alpha thalassemia,Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Heinz body anemia unknown Detail
Likely pathogenic 2021-07-06 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,Beta-thalassemia HBB/LCRB,Dominant beta-thalassemia,Methemoglobinemia, beta-globin type,alpha thalassemia,Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Heinz body anemia unknown Detail
Likely pathogenic 2021-07-06 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,Beta-thalassemia HBB/LCRB,Dominant beta-thalassemia,Methemoglobinemia, beta-globin type,alpha thalassemia,Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Heinz body anemia unknown Detail
Likely pathogenic 2021-07-06 criteria provided, single submitter Erythrocytosis, familial, 6,Hb SS disease,Beta-thalassemia HBB/LCRB,Dominant beta-thalassemia,Methemoglobinemia, beta-globin type,alpha thalassemia,Hereditary persistence of fetal hemoglobin,Malaria, susceptibility to,Heinz body anemia unknown Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000518.4(HBB):c.[205C>T;20A>T] AND HEMOGLOBIN JAMAICA PLAIN ClinVar Detail
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) AND HEMOGLOBIN ROCKFORD ClinVar Detail
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) AND not provided ClinVar Detail
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) AND multiple conditions ClinVar Detail
NM_000518.5(HBB):c.205C>T (p.Leu69Phe) AND multiple conditions ClinVar 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
rs33961459 dbSNP
Genome
hg19
Position
chr11:5,247,917-5,247,917
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser