chr8:98847255:T>C Detail (hg19) (LAPTM4B)

Information

Genome

Assembly Position
hg19 chr8:98,847,255-98,847,255
hg38 chr8:97,835,027-97,835,027 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_018407.4:c.876+9874T>C
Ensemble ENST00000445593.6:c.876+9874T>C
ENST00000521545.7:c.603+9874T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.248
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 613296 OMIM
HGNC 13646 HGNC
Ensembl ENSG00000104341 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv34059363 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 Adolescent idiopathic scoliosis This study revealed that the SNPs of rs2449539 in lysosomal-associated transmemb... BeFree 23364988 Detail
Annotation

Annotations

DescrptionSourceLinks
This study revealed that the SNPs of rs2449539 in lysosomal-associated transmembrane protein 4 beta ... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs2449539 dbSNP
Genome
hg19
Position
chr8:98,847,255-98,847,255
Variant Type
snv
Reference Allele
T
Alternative Allele
C
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))
rs2449539
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2483
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4161
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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