chr1:146018376:AGAG> Detail (hg38) (HJV)

Information

Genome

Assembly Position
hg19 chr1:145,416,634-145,416,637 
hg38 chr1:146,018,376-146,018,379

HGVS

Type Transcript Protein
RefSeq NM_001316767.1:c.979_982delCTCT NP_001303696.1:p.Ser328AspfsTer10
NM_213653.3:c.979_982delCTCT NP_998818.1:p.Ser328AspfsTer10
NM_145277.4:c.640_643delCTCT NP_660320.3:p.Ser215AspfsTer10
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
Annotation

Annotations

DescrptionSourceLinks
NA 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
rs786205063 dbSNP
Genome
hg38
Position
chr1:146,018,376-146,018,379
Variant Type
snv
Reference Allele
AGAG
Alternative Allele
-
Genome browser