U.S. flag

An official website of the United States government

NM_000463.3(UGT1A1):c.110G>A (p.Gly37Asp) AND Crigler-Najjar syndrome, type II

Germline classification:
Uncertain significance (1 submission)
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV003443186.1

Allele description [Variation Report for NM_000463.3(UGT1A1):c.110G>A (p.Gly37Asp)]

NM_000463.3(UGT1A1):c.110G>A (p.Gly37Asp)

Genes:
  • UGT1A:UDP glucuronosyltransferase family 1 member A complex locus [Gene - HGNC]
  • UGT1A10:UDP glucuronosyltransferase family 1 member A10 [Gene - OMIM - HGNC]
  • UGT1A1:UDP glucuronosyltransferase family 1 member A1 [Gene - OMIM - HGNC]
  • UGT1A3:UDP glucuronosyltransferase family 1 member A3 [Gene - OMIM - HGNC]
  • UGT1A4:UDP glucuronosyltransferase family 1 member A4 [Gene - OMIM - HGNC]
  • UGT1A5:UDP glucuronosyltransferase family 1 member A5 [Gene - OMIM - HGNC]
  • UGT1A6:UDP glucuronosyltransferase family 1 member A6 [Gene - OMIM - HGNC]
  • UGT1A7:UDP glucuronosyltransferase family 1 member A7 [Gene - OMIM - HGNC]
  • UGT1A8:UDP glucuronosyltransferase family 1 member A8 [Gene - OMIM - HGNC]
  • UGT1A9:UDP glucuronosyltransferase family 1 member A9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.1
Genomic location:
Preferred name:
NM_000463.3(UGT1A1):c.110G>A (p.Gly37Asp)
HGVS:
  • NC_000002.12:g.233760397G>A
  • NG_002601.2:g.175654G>A
  • NG_033238.1:g.5125G>A
  • NM_000463.3:c.110G>AMANE SELECT
  • NM_001072.4:c.862-6637G>AMANE SELECT
  • NM_007120.3:c.868-6637G>AMANE SELECT
  • NM_019075.4:c.856-6637G>AMANE SELECT
  • NM_019076.5:c.856-6637G>AMANE SELECT
  • NM_019077.3:c.856-6637G>AMANE SELECT
  • NM_019078.2:c.868-6637G>AMANE SELECT
  • NM_019093.4:c.868-6637G>AMANE SELECT
  • NM_021027.3:c.856-6637G>AMANE SELECT
  • NM_205862.3:c.61-6637G>A
  • NP_000454.1:p.Gly37Asp
  • NP_000454.1:p.Gly37Asp
  • LRG_733t1:c.110G>A
  • LRG_733:g.5125G>A
  • LRG_733p1:p.Gly37Asp
  • NC_000002.11:g.234669043G>A
  • NM_000463.2:c.110G>A
Protein change:
G37D
Links:
dbSNP: rs780016114
NCBI 1000 Genomes Browser:
rs780016114
Molecular consequence:
  • NM_001072.4:c.862-6637G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_007120.3:c.868-6637G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019075.4:c.856-6637G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019076.5:c.856-6637G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019077.3:c.856-6637G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019078.2:c.868-6637G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_019093.4:c.868-6637G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_021027.3:c.856-6637G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_205862.3:c.61-6637G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000463.3:c.110G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Crigler-Najjar syndrome, type II
Synonyms:
HYPERBILIRUBINEMIA, CRIGLER-NAJJAR TYPE II; Crigler Najjar syndrome, type 2; Mutation in the UDP-glucuronosyl-transferase gene
Identifiers:
MONDO: MONDO:0011725; MedGen: C2931132; Orphanet: 205; OMIM: 606785

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV003926467Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS)
no assertion criteria provided
Uncertain significancegermlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineyesnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Clinical Laboratory Sciences Program (CLSP), King Saud bin Abdulaziz University for Health Sciences (KSAU-HS), SCV003926467.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 16, 2025