chr4:168756241:A>G Detail (hg38) (PALLD)

Information

Genome

Assembly Position
hg19 chr4:169,677,392-169,677,392 View the variant detail on this assembly version.
hg38 chr4:168,756,241-168,756,241

HGVS

Type Transcript Protein
RefSeq NM_001166108.1:c.1964+44318A>G
NM_016081.3:c.1964+44318A>G
NM_001166109.1:c.818+44318A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.128
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 608092 OMIM
HGNC 17068 HGNC
Ensembl ENSG00000129116 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv19470195 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-01-29 criteria provided, single submitter pancreatic adenocarcinoma germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.005 myocardial infarction We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TA... BeFree 19709766 Detail
0.008 myocardial infarction We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TA... BeFree 19709766 Detail
0.005 myocardial infarction We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TA... BeFree 19709766 Detail
0.010 myocardial infarction We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TA... BeFree 19709766 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001166108.2(PALLD):c.1964+44318A>G AND Pancreatic adenocarcinoma ClinVar Detail
We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (O... DisGeNET Detail
We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (O... DisGeNET Detail
We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (O... DisGeNET Detail
We examined the polymorphisms rs12510359 (PALLD), rs619203 (ROS1), rs1376251 (TAS2R50), rs1151640 (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
rs12510359 dbSNP
Genome
hg38
Position
chr4:168,756,241-168,756,241
Variant Type
snv
Reference Allele
A
Alternative Allele
G
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
PASS
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs12510359
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.1279
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2143
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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