chr2:178570938:T>C Detail (hg38) (TTN, TTN-AS1)

Information

Genome

Assembly Position
hg19 chr2:179,435,665-179,435,665 View the variant detail on this assembly version.
hg38 chr2:178,570,938-178,570,938

HGVS

Type Transcript Protein
RefSeq NM_001256850.1:c.67490A>G NP_001243779.1:p.His22497Arg
NM_133378.4:c.67490A>G NP_596869.4:p.His22497Arg
NM_003319.4:c.47999A>G NP_003310.4:p.His16000Arg
Summary

MGeND

Clinical significance Benign
Variant entry 1
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.013
ToMMo:0.015
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.004

Prediction

ClinVar

Clinical Significance Conflicting classifications of pathogenicity
Review star
Show details
Links
Type Database ID Link
Gene MIM 188840 OMIM
HGNC 12403 HGNC
Ensembl ENSG00000155657 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv9654418 TogoVar
COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
Benign Centenarian germline MGS000068
(TMGS000140) 		Kenjiro Kosaki Keio University
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-13 criteria provided, single submitter tibial muscular dystrophy germline Detail
Uncertain significance 2018-01-13 criteria provided, single submitter autosomal recessive limb-girdle muscular dystrophy type 2J germline Detail
Benign 2018-01-13 criteria provided, single submitter Myopathy, myofibrillar, 9, with early respiratory failure germline Detail
Uncertain significance 2018-01-13 criteria provided, single submitter Early-onset myopathy with fatal cardiomyopathy germline Detail
Uncertain significance 2018-01-13 criteria provided, single submitter dilated cardiomyopathy 1G germline Detail
Benign 2024-01-08 criteria provided, single submitter dilated cardiomyopathy 1G,autosomal recessive limb-girdle muscular dystrophy type 2J germline Detail
Benign 2024-01-08 criteria provided, single submitter dilated cardiomyopathy 1G,autosomal recessive limb-girdle muscular dystrophy type 2J germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_001267550.2(TTN):c.75194A>G (p.His25065Arg) AND Tibial muscular dystrophy ClinVar Detail
NM_001267550.2(TTN):c.75194A>G (p.His25065Arg) AND Autosomal recessive limb-girdle muscular dystroph... ClinVar Detail
NM_001267550.2(TTN):c.75194A>G (p.His25065Arg) AND Myopathy, myofibrillar, 9, with early respiratory... ClinVar Detail
NM_001267550.2(TTN):c.75194A>G (p.His25065Arg) AND Early-onset myopathy with fatal cardiomyopathy ClinVar Detail
NM_001267550.2(TTN):c.75194A>G (p.His25065Arg) AND Dilated cardiomyopathy 1G ClinVar Detail
NM_001267550.2(TTN):c.75194A>G (p.His25065Arg) AND multiple conditions ClinVar Detail
NM_001267550.2(TTN):c.75194A>G (p.His25065Arg) AND multiple conditions ClinVar 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
rs182161195 dbSNP
Genome
hg38
Position
chr2:178,570,938-178,570,938
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
117.62
Standard deviation of sample read depth (HGVD)
66.92
Number of reference allele (HGVD)
2388
Number of alternative allele (HGVD)
32
Allele Frequency (HGVD)
0.013223140495867768
Gene Symbol (HGVD)
TTN
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))
rs182161195
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0146
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
244
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8600
East Asian Allele Counts (ExAC)
34
East Asian Heterozygous Counts (ExAC)
34
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.003953488372093023
Chromosome Counts in All Race (ExAC)
120700
Allele Counts in All Race (ExAC)
35
Heterozygous Counts in All Race (ExAC)
35
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.899751449875725E-4
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