chr2:233768218:A>G Detail (hg38) (UGT1A, UGT1A10, UGT1A8, UGT1A7, UGT1A6, UGT1A5, UGT1A9, UGT1A4, UGT1A1, UGT1A3)

Information

Genome

Assembly Position
hg19 chr2:234,676,864-234,676,864 View the variant detail on this assembly version.
hg38 chr2:233,768,218-233,768,218

HGVS

Type Transcript Protein
RefSeq NM_000463.2:c.1085-2A>G
Ensemble ENST00000305208.10:c.1085-2A>G
ENST00000360418.4:c.1085-2A>G
Type Transcript Protein
RefSeq NM_019075.2:c.1076-2A>G
Ensemble ENST00000344644.10:c.1076-2A>G
ENST00000373445.1:c.1076-2A>G
Type Transcript Protein
RefSeq NM_019093.2:c.1088-2A>G
Ensemble ENST00000482026.6:c.1088-2A>G
Type Transcript Protein
RefSeq NM_007120.2:c.1088-2A>G
Ensemble ENST00000373409.8:c.1088-2A>G
Type Transcript Protein
RefSeq NM_019078.1:c.1088-2A>G
Ensemble ENST00000373414.4:c.1088-2A>G
Type Transcript Protein
RefSeq NM_001072.3:c.1082-2A>G
NM_205862.1:c.281-2A>G
Ensemble ENST00000305139.11:c.1082-2A>G
Type Transcript Protein
RefSeq NM_019077.2:c.1076-2A>G
Ensemble ENST00000373426.4:c.1076-2A>G
Type Transcript Protein
RefSeq NM_019076.4:c.1076-2A>G
Ensemble ENST00000373450.5:c.1076-2A>G
Type Transcript Protein
RefSeq NM_021027.2:c.1076-2A>G
Ensemble ENST00000354728.5:c.1076-2A>G
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 191740 OMIM
HGNC 12530 HGNC
Ensembl ENSG00000241635 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 606435 OMIM
HGNC 12531 HGNC
Ensembl ENSG00000242515 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 606428 OMIM
HGNC 12535 HGNC
Ensembl ENSG00000288702 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 606429 OMIM
HGNC 12536 HGNC
Ensembl ENSG00000244474 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 606430 OMIM
HGNC 12537 HGNC
Ensembl ENSG00000288705 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 606431 OMIM
HGNC 12538 HGNC
Ensembl ENSG00000167165 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 606432 OMIM
HGNC 12539 HGNC
Ensembl ENSG00000244122 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 606433 OMIM
HGNC 12540 HGNC
Ensembl ENSG00000242366 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Type Database ID Link
Gene MIM 606434 OMIM
HGNC 12541 HGNC
Ensembl ENSG00000241119 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 1998-03-01 no assertion criteria provided Crigler-Najjar syndrome type 1 germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000463.3(UGT1A1):c.1085-2A>G AND Crigler-Najjar syndrome type 1 ClinVar Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs587776766 dbSNP
Genome
hg38
Position
chr2:233,768,218-233,768,218
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser