chr12:49692218:C>A Detail (hg19) (PRPH, TROAP-AS1)

Information

Genome

Assembly Position
hg19 chr12:49,692,218-49,692,218
hg38 chr12:49,298,435-49,298,435 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006262.3:c.*82C>A
Ensemble ENST00000257860.9:c.*82C>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance not provided
Review star
Show details
Links
Type Database ID Link
Gene MIM 170710 OMIM
HGNC 9461 HGNC
Ensembl ENSG00000135406 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
not provided no assertion provided not provided not provided Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_006262.4(PRPH):c.*82C>A AND not provided 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
rs7137584 dbSNP
Genome
hg19
Position
chr12:49,692,218-49,692,218
Variant Type
snv
Reference Allele
C
Alternative Allele
A
Genome browser