chr11:2190951:C>T Detail (hg19) (TH)

Information

Genome

Assembly Position
hg19 chr11:2,190,951-2,190,951
hg38 chr11:2,169,721-2,169,721 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000360.3:c.241G>A NP_000351.2:p.Val81Met
NM_199293.2:c.322G>A NP_954987.2:p.Val108Met
NM_199292.2:c.334G>A NP_954986.2:p.Val112Met
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.697
ToMMo:0.675
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.793

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 191290 OMIM
HGNC 11782 HGNC
Ensembl ENSG00000180176 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv41353711 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts Autosomal recessive DOPA responsive dystonia germline unknown Detail
Benign Likely benign 2021-12-03 criteria provided, multiple submitters, no conflicts not specified germline Detail
Benign 2017-04-14 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign criteria provided, single submitter schizophrenia germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.005 borderline personality disorder These data do not suggest independent or interactive effects of the TH Val(81)Me... BeFree 20146650 Detail
0.004 Alcoholic Intoxication, Chronic Tyrosine hydroxylase Val-81-Met polymorphism associated with early-onset alcohol... BeFree 15722952 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000360.4(TH):c.241G>A (p.Val81Met) AND Autosomal recessive DOPA responsive dystonia ClinVar Detail
NM_000360.4(TH):c.241G>A (p.Val81Met) AND not specified ClinVar Detail
NM_000360.4(TH):c.241G>A (p.Val81Met) AND not provided ClinVar Detail
NM_000360.4(TH):c.241G>A (p.Val81Met) AND Schizophrenia ClinVar Detail
These data do not suggest independent or interactive effects of the TH Val(81)Met, the 5-HTTLPR/rs25... DisGeNET Detail
Tyrosine hydroxylase Val-81-Met polymorphism associated with early-onset alcoholism. 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
rs6356 dbSNP
Genome
hg19
Position
chr11:2,190,951-2,190,951
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1206
Mean of sample read depth (HGVD)
101.61
Standard deviation of sample read depth (HGVD)
52.16
Number of reference allele (HGVD)
731
Number of alternative allele (HGVD)
1681
Allele Frequency (HGVD)
0.6969320066334992
Gene Symbol (HGVD)
TH
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))
rs6356
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.6755
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
11314
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16750
East Asian Chromosome Counts (ExAC)
8630
East Asian Allele Counts (ExAC)
6847
East Asian Heterozygous Counts (ExAC)
1445
East Asian Homozygous Counts (ExAC)
2701
East Asian Allele Frequency (ExAC)
0.7933951332560835
Chromosome Counts in All Race (ExAC)
119912
Allele Counts in All Race (ExAC)
50951
Heterozygous Counts in All Race (ExAC)
26779
Homozygous Counts in All Race (ExAC)
12086
Allele Frequency in All Race (ExAC)
0.4249032623924211
Genome browser