chr11:66293652:T>G Detail (hg19) (BBS1, ZDHHC24)

Information

Genome

Assembly Position
hg19 chr11:66,293,652-66,293,652
hg38 chr11:66,526,181-66,526,181 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_024649.4:c.1169T>G NP_078925.3:p.Met390Arg
Ensemble ENST00000393994.4:c.782T>G ENST00000393994.4:p.Met261Arg
ENST00000630659.2:c.*876T>G
Type Transcript Protein
RefSeq NM_001348571.1:c.*21+755A>C
Ensemble ENST00000526986.5:c.*21+755A>C
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

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

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 209901 OMIM
HGNC 966 HGNC
Ensembl ENSG00000174483 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM
HGNC 27387 HGNC
Ensembl ENSG00000174165 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic Likely pathogenic 2023-02-20 criteria provided, multiple submitters, no conflicts Bardet-Biedl syndrome 1 biparental germline inherited maternal unknown Detail
Pathogenic 2024-03-01 criteria provided, multiple submitters, no conflicts not provided germline unknown Detail
Pathogenic 2024-01-31 criteria provided, multiple submitters, no conflicts Bardet-Biedl syndrome germline unknown Detail
Pathogenic 2019-08-15 criteria provided, single submitter Retinal dystrophy germline unknown Detail
Pathogenic Likely pathogenic 2019-06-23 no assertion criteria provided retinitis pigmentosa inherited unknown Detail
Pathogenic 2018-04-01 no assertion criteria provided Usher syndrome unknown Detail
Pathogenic 2021-10-15 criteria provided, single submitter germline Detail
Pathogenic 2021-01-06 criteria provided, single submitter Inborn genetic diseases germline Detail
Pathogenic 2024-02-01 criteria provided, single submitter BBS1-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.001 Retinal Diseases (IOVS 2006) and in the Bbs1-M390R knock-in mouse model, and expands it to the ch... BeFree 22940089 Detail
0.002 Bardet-Biedl syndrome Furthermore, we show that BBS1 with the M390R mutation, responsible for 30% of a... BeFree 25402481 Detail
0.003 Retinal Diseases (IOVS 2006) and in the Bbs1-M390R knock-in mouse model, and expands it to the ch... BeFree 22940089 Detail
0.001 Retinal Diseases (IOVS 2006) and in the Bbs1-M390R knock-in mouse model, and expands it to the ch... BeFree 22940089 Detail
0.365 Bardet-Biedl syndrome Furthermore, we show that BBS1 with the M390R mutation, responsible for 30% of a... BeFree 25402481 Detail
<0.001 Autosomal recessive retinitis pigmentosa To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M3... BeFree 23143442 Detail
0.369 Bardet-Biedl syndrome Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the co... BeFree 22940089 Detail
0.321 Bardet-Biedl syndrome 1 (disorder) BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a re... UNIPROT 21344540 Detail
0.378 Bardet-Biedl syndrome To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M3... BeFree 23143442 Detail
0.369 Bardet-Biedl syndrome Furthermore, we show that BBS1 with the M390R mutation, responsible for 30% of a... BeFree 25402481 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) AND Bardet-Biedl syndrome 1 ClinVar Detail
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) AND not provided ClinVar Detail
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) AND Bardet-Biedl syndrome ClinVar Detail
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) AND Retinal dystrophy ClinVar Detail
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) AND Retinitis pigmentosa ClinVar Detail
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) AND Usher syndrome ClinVar Detail
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) AND See cases ClinVar Detail
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) AND Inborn genetic diseases ClinVar Detail
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) AND BBS1-related disorder ClinVar Detail
(IOVS 2006) and in the Bbs1-M390R knock-in mouse model, and expands it to the characterization of im... DisGeNET Detail
Furthermore, we show that BBS1 with the M390R mutation, responsible for 30% of all reported BBS dise... DisGeNET Detail
(IOVS 2006) and in the Bbs1-M390R knock-in mouse model, and expands it to the characterization of im... DisGeNET Detail
(IOVS 2006) and in the Bbs1-M390R knock-in mouse model, and expands it to the characterization of im... DisGeNET Detail
Furthermore, we show that BBS1 with the M390R mutation, responsible for 30% of all reported BBS dise... DisGeNET Detail
To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsy... DisGeNET Detail
Phenotypic expression of Bardet-Biedl syndrome in patients homozygous for the common M390R mutation ... DisGeNET Detail
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the diseas... DisGeNET Detail
To investigate the involvement of the Bardet-Biedl syndrome (BBS) gene BBS1 p.M390R variant in nonsy... DisGeNET Detail
Furthermore, we show that BBS1 with the M390R mutation, responsible for 30% of all reported BBS dise... 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
rs113624356 dbSNP
Genome
hg19
Position
chr11:66,293,652-66,293,652
Variant Type
snv
Reference Allele
T
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
121308
Allele Counts in All Race (ExAC)
180
Heterozygous Counts in All Race (ExAC)
180
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
0.001483826293401919
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