PNP c.128+127C>A Detail (hg19) (PNP)

Information

Genome

Assembly Position
hg19 chr14:20,938,061-20,938,061
hg38 chr14:20,469,902-20,469,902 

HGVS

Type Transcript Protein
RefSeq NM_000270.3:c.11+367C>A
Ensemble ENST00000553591.2:c.128+127C>A
ENST00000361505.10:c.11+367C>A
Summary

MGeND

Clinical significance not provided
Variant entry 1
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 164050 OMIM
HGNC 7892 HGNC
Ensembl ENSG00000198805 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided lower third of oesophagus not provided MGS000041
(TMGS000094) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
Genome
hg19
Position
chr14:20,938,061-20,938,061
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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