chr10:54531226:C>T Detail (hg19) (MBL2)

Information

Genome

Assembly Position
hg19 chr10:54,531,226-54,531,226
hg38 chr10:52,771,466-52,771,466 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000242.2:c.170G>A NP_000233.1:p.Gly57Glu
Ensemble ENST00000675947.1:c.170G>A ENST00000675947.1:p.Gly57Glu
ENST00000674931.1:c.170G>A ENST00000674931.1:p.Gly57Glu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:<0.001
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 154545 OMIM
HGNC 6922 HGNC
Ensembl ENSG00000165471 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv39300718 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely benign 2017-04-27 criteria provided, single submitter Mannose-binding lectin deficiency germline Detail
Benign 2016-03-28 criteria provided, single submitter not specified germline Detail
Benign 2023-10-18 criteria provided, multiple submitters, no conflicts not provided germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
<0.001 peritonitis We genotyped and analyzed 4 important MBL2 single nucleotide polymorphisms (SNPs... BeFree 25969530 Detail
0.001 Community acquired pneumonia We genotyped and analyzed 4 important MBL2 single nucleotide polymorphisms (SNPs... BeFree 25969530 Detail
0.172 HIV Infections We found that (i) the prevalence of the common variant MBL alleles is correlated... BeFree 12847552 Detail
0.032 tuberculosis Variant G57E of mannose binding lectin associated with protection against tuberc... BeFree 21695215 Detail
0.032 tuberculosis We found that (i) the prevalence of the common variant MBL alleles is correlated... BeFree 12847552 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu) AND Mannose-binding lectin deficiency ClinVar Detail
NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu) AND not specified ClinVar Detail
NM_001378373.1(MBL2):c.170G>A (p.Gly57Glu) AND not provided ClinVar Detail
We genotyped and analyzed 4 important MBL2 single nucleotide polymorphisms (SNPs; rs5030737, rs18004... DisGeNET Detail
We genotyped and analyzed 4 important MBL2 single nucleotide polymorphisms (SNPs; rs5030737, rs18004... DisGeNET Detail
We found that (i) the prevalence of the common variant MBL alleles is correlated with the incidence ... DisGeNET Detail
Variant G57E of mannose binding lectin associated with protection against tuberculosis caused by Myc... DisGeNET Detail
We found that (i) the prevalence of the common variant MBL alleles is correlated with the incidence ... 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
rs1800451 dbSNP
Genome
hg19
Position
chr10:54,531,226-54,531,226
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Filtering Status (HGVD)
LowQual
# of samples (HGVD)
791
Mean of sample read depth (HGVD)
9.99
Standard deviation of sample read depth (HGVD)
20.61
Number of reference allele (HGVD)
1581
Number of alternative allele (HGVD)
1
Allele Frequency (HGVD)
6.321112515802782E-4
Gene Symbol (HGVD)
MBL2
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1555350127108852E-4
Chromosome Counts in All Race (ExAC)
121312
Allele Counts in All Race (ExAC)
4439
Heterozygous Counts in All Race (ExAC)
3883
Homozygous Counts in All Race (ExAC)
278
Allele Frequency in All Race (ExAC)
0.036591598522817195
Genome browser