chr12:39696776:G>T Detail (hg19) (KIF21A)

Information

Genome

Assembly Position
hg19 chr12:39,696,776-39,696,776
hg38 chr12:39,302,974-39,302,974 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001173464.1:c.4683C>A NP_001166935.1:p.Asp1561Glu
NM_017641.3:c.4683C>A NP_060111.2:p.Asp1561Glu
NM_001173465.1:c.4563C>A NP_001166936.1:p.Asp1521Glu
Summary

MGeND

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

Frequency

JP HGVD:0.003
ToMMo:0.006
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 608283 OMIM
HGNC 19349 HGNC
Ensembl ENSG00000139116 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv45556729 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
[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
-
Genome
hg19
Position
chr12:39,696,776-39,696,776
Variant Type
snv
Reference Allele
G
Alternative Allele
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1167
Mean of sample read depth (HGVD)
30.75
Standard deviation of sample read depth (HGVD)
23.12
Number of reference allele (HGVD)
2326
Number of alternative allele (HGVD)
8
Allele Frequency (HGVD)
0.003427592116538132
Gene Symbol (HGVD)
KIF21A
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))
rs191093660
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0057
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
95
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8648
East Asian Allele Counts (ExAC)
5
East Asian Heterozygous Counts (ExAC)
5
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
5.78168362627197E-4
Chromosome Counts in All Race (ExAC)
121376
Allele Counts in All Race (ExAC)
5
Heterozygous Counts in All Race (ExAC)
5
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
4.1194305299235436E-5
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