chr16:227402:T>C Detail (hg19) (HBA1, LOC106804613)

Information

Genome

Assembly Position
hg19 chr16:227,402-227,402
hg38 chr16:177,403-177,403 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000558.4:c.421T>C NP_000549.1:p.Tyr141His
Ensemble ENST00000320868.9:c.421T>C ENST00000320868.9:p.Tyr141His
ENST00000397797.1:c.325T>C ENST00000397797.1:p.Tyr109His
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic; other
Review star
Show details
Links
Type Database ID Link
Gene MIM 141800 OMIM
HGNC 4823 HGNC
Ensembl ENSG00000206172 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 2019-11-01 no assertion criteria provided germline Detail
other 2019-11-01 no assertion criteria provided germline Detail
Pathogenic 1992-01-01 no assertion criteria provided Erythrocytosis, familial, 7 germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000558.5(HBA1):c.421T>C (p.Tyr141His) AND HEMOGLOBIN ROUEN ClinVar Detail
NM_000558.5(HBA1):c.421T>C (p.Tyr141His) AND HEMOGLOBIN ETHIOPIA ClinVar Detail
NM_000558.5(HBA1):c.421T>C (p.Tyr141His) AND Erythrocytosis, familial, 7 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
rs35723200 dbSNP
Genome
hg19
Position
chr16:227,402-227,402
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Genome browser