chr8:22540901:G>A Detail (hg38) (PPP3CC)

Information

Genome

Assembly Position
hg19 chr8:22,398,414-22,398,414 View the variant detail on this assembly version.
hg38 chr8:22,540,901-22,540,901

HGVS

Type Transcript Protein
RefSeq NM_005605.4:c.*99G>A
NM_001243975.1:c.*99G>A
NM_001243974.1:c.*99G>A
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 114107 OMIM
HGNC 9316 HGNC
Ensembl ENSG00000120910 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
<0.001 Melancholia About 62% of patients exhibiting the allelic combination of GG-GG-TT for rs6265,... BeFree 25769916 Detail
Annotation

Annotations

DescrptionSourceLinks
About 62% of patients exhibiting the allelic combination of GG-GG-TT for rs6265, rs7430 and rs6313 o... 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
rs7430 dbSNP
Genome
hg38
Position
chr8:22,540,901-22,540,901
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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