chr1:209623853:A>G Detail (hg38) (LAMB3)

Information

Genome

Assembly Position
hg19 chr1:209,797,198-209,797,198 View the variant detail on this assembly version.
hg38 chr1:209,623,853-209,623,853

HGVS

Type Transcript Protein
RefSeq NM_000228.2:c.2124T>C NP_000219.2:p.Ser708=
NM_001127641.1:c.2124T>C NP_001121113.1:p.Ser708=
NM_001017402.1:c.2124T>C NP_001017402.1:p.Ser708=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.252
ToMMo:0.269
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.259

Prediction

ClinVar

Clinical Significance Benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 150310 OMIM
HGNC 6490 HGNC
Ensembl ENSG00000196878 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv4637170 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-13 criteria provided, single submitter junctional epidermolysis bullosa germline Detail
Benign 2024-02-01 criteria provided, multiple submitters, no conflicts not provided germline Detail
Benign 2021-07-08 criteria provided, single submitter amelogenesis imperfecta type 1A germline Detail
Benign 2021-07-08 criteria provided, single submitter Junctional epidermolysis bullosa gravis of Herlitz germline Detail
Benign 2021-07-08 criteria provided, single submitter Junctional epidermolysis bullosa, non-Herlitz type germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000228.3(LAMB3):c.2124T>C (p.Ser708=) AND Junctional epidermolysis bullosa ClinVar Detail
NM_000228.3(LAMB3):c.2124T>C (p.Ser708=) AND not provided ClinVar Detail
NM_000228.3(LAMB3):c.2124T>C (p.Ser708=) AND Amelogenesis imperfecta type 1A ClinVar Detail
NM_000228.3(LAMB3):c.2124T>C (p.Ser708=) AND Junctional epidermolysis bullosa gravis of Herlitz ClinVar Detail
NM_000228.3(LAMB3):c.2124T>C (p.Ser708=) AND Junctional epidermolysis bullosa, non-Herlitz type 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
rs2072937 dbSNP
Genome
hg38
Position
chr1:209,623,853-209,623,853
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
100.90
Standard deviation of sample read depth (HGVD)
47.26
Number of reference allele (HGVD)
1810
Number of alternative allele (HGVD)
610
Allele Frequency (HGVD)
0.25206611570247933
Gene Symbol (HGVD)
LAMB3
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))
rs2072937
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2692
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4512
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8640
East Asian Allele Counts (ExAC)
2236
East Asian Heterozygous Counts (ExAC)
1662
East Asian Homozygous Counts (ExAC)
287
East Asian Allele Frequency (ExAC)
0.2587962962962963
Chromosome Counts in All Race (ExAC)
121318
Allele Counts in All Race (ExAC)
6753
Heterozygous Counts in All Race (ExAC)
5811
Homozygous Counts in All Race (ExAC)
471
Allele Frequency in All Race (ExAC)
0.05566362782109827
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