chr12:57864757:C>T Detail (hg19) (GLI1)

Information

Genome

Assembly Position
hg19 chr12:57,864,757-57,864,757
hg38 chr12:57,470,974-57,470,974 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001160045.1:c.1850C>T NP_001153517.1:p.Ala617Val
NM_005269.2:c.2234C>T NP_005260.1:p.Ala745Val
NM_001167609.1:c.2111C>T NP_001161081.1:p.Ala704Val
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 165220 OMIM
HGNC 4317 HGNC
Ensembl ENSG00000111087 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv46070376 TogoVar
COSMIC COSM3384538 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

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
rs138157845 dbSNP
Genome
hg19
Position
chr12:57,864,757-57,864,757
Variant Type
snv
Reference Allele
C
Alternative Allele
T
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))
rs138157845
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
1
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8616
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
119822
Allele Counts in All Race (ExAC)
33
Heterozygous Counts in All Race (ExAC)
33
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.7540852264191883E-4
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