chr16:72054522:C>G Detail (hg38) (HP)

Information

Genome

Assembly Position
hg19 chr16:72,088,421-72,088,421 View the variant detail on this assembly version.
hg38 chr16:72,054,522-72,054,522

HGVS

Type Transcript Protein
RefSeq NM_005143.3:c.-131C>G
Ensemble ENST00000355906.10:c.-131C>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 140100 OMIM
HGNC 5141 HGNC
Ensembl ENSG00000257017 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv396345434 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 Sickle Cell Trait The objective was to investigate whether haptoglobin (Hp) haplotypes constructed... BeFree 20552021 Detail
<0.001 Sickle Cell Trait The objective was to investigate whether haptoglobin (Hp) haplotypes constructed... BeFree 20552021 Detail
<0.001 trachoma The objective was to investigate whether haptoglobin (Hp) haplotypes constructed... BeFree 20552021 Detail
Annotation

Annotations

DescrptionSourceLinks
The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional... DisGeNET Detail
The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional... DisGeNET Detail
The objective was to investigate whether haptoglobin (Hp) haplotypes constructed from the functional... 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
rs5470 dbSNP
Genome
hg38
Position
chr16:72,054,522-72,054,522
Variant Type
snv
Reference Allele
C
Alternative Allele
G
Genome browser