chr1:209615169:G>A Detail (hg38) (LAMB3)

Information

Genome

Assembly Position
hg19 chr1:209,788,514-209,788,514 View the variant detail on this assembly version.
hg38 chr1:209,615,169-209,615,169

HGVS

Type Transcript Protein
RefSeq NM_000228.2:c.*102C>T
NM_001127641.1:c.*102C>T
NM_001017402.1:c.*102C>T
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:0.334
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:[No Data.]

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 tgv4636452 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2018-01-12 criteria provided, single submitter junctional epidermolysis bullosa germline Detail
Benign 2024-01-08 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
Score Disease name Description Source Pubmed Links
<0.001 Carcinogenesis These findings indicate that pri-miR-218 rs11134527 and LAMB3 rs2566 may contrib... BeFree 20163849 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_000228.3(LAMB3):c.*102C>T AND Junctional epidermolysis bullosa ClinVar Detail
NM_000228.3(LAMB3):c.*102C>T AND not provided ClinVar Detail
NM_000228.3(LAMB3):c.*102C>T AND Amelogenesis imperfecta type 1A ClinVar Detail
NM_000228.3(LAMB3):c.*102C>T AND Junctional epidermolysis bullosa gravis of Herlitz ClinVar Detail
NM_000228.3(LAMB3):c.*102C>T AND Junctional epidermolysis bullosa, non-Herlitz type ClinVar Detail
These findings indicate that pri-miR-218 rs11134527 and LAMB3 rs2566 may contribute to cervical canc... 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
rs2566 dbSNP
Genome
hg38
Position
chr1:209,615,169-209,615,169
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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))
rs2566
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.334
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5598
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
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