chr2:232536197:T>C Detail (hg38) (CHRND, CHRNG)

Information

Genome

Assembly Position
hg19 chr2:233,400,907-233,400,907 View the variant detail on this assembly version.
hg38 chr2:232,536,197-232,536,197

HGVS

Type Transcript Protein
RefSeq NM_000751.2:c.*885T>C
NM_001256657.1:c.*885T>C
NM_001311195.1:c.*885T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.563
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.553

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 100720 OMIM
HGNC 1965 HGNC
Ensembl ENSG00000135902 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv10881613 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2016-06-14 criteria provided, single submitter Congenital Myasthenic Syndrome, Dominant/Recessive germline Detail
Benign Likely benign 2016-06-14 criteria provided, single submitter Autosomal recessive multiple pterygium syndrome germline Detail
Benign 2018-01-12 criteria provided, single submitter Lethal multiple pterygium syndrome germline Detail
Benign 2018-01-12 criteria provided, single submitter congenital myasthenic syndrome germline Detail
Benign 2021-05-10 criteria provided, single submitter not provided germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000751.3(CHRND):c.*885T>C AND Congenital Myasthenic Syndrome, Dominant/Recessive ClinVar Detail
NM_000751.3(CHRND):c.*885T>C AND Autosomal recessive multiple pterygium syndrome ClinVar Detail
NM_000751.3(CHRND):c.*885T>C AND Lethal multiple pterygium syndrome ClinVar Detail
NM_000751.3(CHRND):c.*885T>C AND Congenital myasthenic syndrome ClinVar Detail
NM_000751.3(CHRND):c.*885T>C AND not provided 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
rs1004175 dbSNP
Genome
hg38
Position
chr2:232,536,197-232,536,197
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))
rs1004175
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.5628
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
9432
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
132
East Asian Allele Counts (ExAC)
73
East Asian Heterozygous Counts (ExAC)
27
East Asian Homozygous Counts (ExAC)
23
East Asian Allele Frequency (ExAC)
0.553030303030303
Chromosome Counts in All Race (ExAC)
10770
Allele Counts in All Race (ExAC)
4442
Heterozygous Counts in All Race (ExAC)
2560
Homozygous Counts in All Race (ExAC)
941
Allele Frequency in All Race (ExAC)
0.41244196843082637
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