chr1:145415418:A>G Detail (hg19) (HJV)

Information

Genome

Assembly Position
hg19 chr1:145,415,418-145,415,418
hg38 chr1:146,019,594-146,019,594 

HGVS

Type Transcript Protein
RefSeq NM_145277.4:c.-103A>G
NM_202004.3:c.-22+103A>G
NM_001316767.1:c.237A>G NP_001303696.1:p.Leu79=
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 608374 OMIM
HGNC 4887 HGNC
Ensembl ENSG00000168509 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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.320 HEMOCHROMATOSIS, TYPE 2A NA CLINVAR Detail
0.320 HEMOCHROMATOSIS, TYPE 2A Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene en... UNIPROT 14982867 Detail
Annotation

Annotations

DescrptionSourceLinks
NA DisGeNET Detail
Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin. 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
rs28940586 dbSNP
Genome
hg19
Position
chr1:145,415,418-145,415,418
Variant Type
snv
Reference Allele
A
Alternative Allele
G
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