chr14:90405134:T>C Detail (hg38) (CALM1)

Information

Genome

Assembly Position
hg19 chr14:90,871,478-90,871,478 View the variant detail on this assembly version.
hg38 chr14:90,405,134-90,405,134

HGVS

Type Transcript Protein
RefSeq NM_006888.4:c.*417T>C
Ensemble ENST00000356978.9:c.*417T>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.486
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 114180 OMIM
HGNC 1442 HGNC
Ensembl ENSG00000198668 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv51681008 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 The susceptibility of PUMC type II (double curve) AIS and lumbar curve might be ... BeFree 22009783 Detail
<0.001 Dissecting aneurysm of the thoracic aorta The susceptibility of PUMC type II (double curve) AIS and lumbar curve might be ... BeFree 22009783 Detail
<0.001 Dissecting aneurysm of the thoracic aorta The current study indicates that: (i) there are statistical differences between ... BeFree 22009847 Detail
Annotation

Annotations

DescrptionSourceLinks
The susceptibility of PUMC type II (double curve) AIS and lumbar curve might be related to CALM1 rs1... DisGeNET Detail
The susceptibility of PUMC type II (double curve) AIS and lumbar curve might be related to CALM1 rs1... DisGeNET Detail
The current study indicates that: (i) there are statistical differences between patients with double... 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
rs5871 dbSNP
Genome
hg38
Position
chr14:90,405,134-90,405,134
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))
rs5871
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.4862
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
8149
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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