chr15:74036316:C>T Detail (hg38) (PML)

Information

Genome

Assembly Position
hg19 chr15:74,328,657-74,328,657 View the variant detail on this assembly version.
hg38 chr15:74,036,316-74,036,316

HGVS

Type Transcript Protein
RefSeq NM_033238.2:c.1710+1786C>T
NM_033239.2:c.*365C>T
NM_033244.3:c.*365C>T
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 102578 OMIM
HGNC 9113 HGNC
Ensembl ENSG00000140464 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
0.020 nicotine dependence One CHRNA5 (rs16969968) and two CHRNA3 (rs1051703, rs6495308) SNPs were examined... BeFree 22223462 Detail
0.133 nicotine dependence One CHRNA5 (rs16969968) and two CHRNA3 (rs1051703, rs6495308) SNPs were examined... BeFree 22223462 Detail
Annotation

Annotations

DescrptionSourceLinks
One CHRNA5 (rs16969968) and two CHRNA3 (rs1051703, rs6495308) SNPs were examined for their ability t... DisGeNET Detail
One CHRNA5 (rs16969968) and two CHRNA3 (rs1051703, rs6495308) SNPs were examined for their ability t... 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
rs1051703 dbSNP
Genome
hg38
Position
chr15:74,036,316-74,036,316
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser