chr2:60718043:T>G Detail (hg19) (BCL11A)

Information

Genome

Assembly Position
hg19 chr2:60,718,043-60,718,043
hg38 chr2:60,490,908-60,490,908 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_138559.1:c.386-22075A>C
NM_022893.3:c.386-28484A>C
NM_018014.3:c.386-22075A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.846
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 606557 OMIM
HGNC 13221 HGNC
Ensembl ENSG00000119866 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv7103550 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 Sickle Cell Trait The current study was conducted on 240 patients with SCD and 60 with sickle cell... BeFree 25457385 Detail
<0.001 Sickle Cell Trait The current study was conducted on 240 patients with SCD and 60 with sickle cell... BeFree 25457385 Detail
<0.001 Sickle Cell Trait The current study was conducted on 240 patients with SCD and 60 with sickle cell... BeFree 25457385 Detail
<0.001 Sickle Cell Trait The current study was conducted on 240 patients with SCD and 60 with sickle cell... BeFree 25457385 Detail
Annotation

Annotations

DescrptionSourceLinks
The current study was conducted on 240 patients with SCD and 60 with sickle cell trait, to determine... DisGeNET Detail
The current study was conducted on 240 patients with SCD and 60 with sickle cell trait, to determine... DisGeNET Detail
The current study was conducted on 240 patients with SCD and 60 with sickle cell trait, to determine... DisGeNET Detail
The current study was conducted on 240 patients with SCD and 60 with sickle cell trait, to determine... DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs1427407 dbSNP
Genome
hg19
Position
chr2:60,718,043-60,718,043
Variant Type
snv
Reference Allele
T
Alternative Allele
G
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))
rs1427407
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.8463
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
14184
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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