Entry Search - 272750 613109

Search: '272750 613109 (Search in: MIM number)'

Results: 2 entries.

* 613109. GM2 ACTIVATOR; GM2A
Cytogenetic location: 5q33.1, Genomic coordinates (GRCh38): 5:151,253,185-151,270,440
Matching terms: 613109
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
5q33.1	GM2-gangliosidosis, AB variant	272750	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene OMIA ZFin	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 71253000

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# 272750. GM2-GANGLIOSIDOSIS, AB VARIANT
Cytogenetic location: 5q33.1
Matching terms: 272750
► Phenotype-Gene Relationships ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
5q33.1	GM2-gangliosidosis, AB variant	272750	AR	3	GM2A	613109

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Links
Testing GTR EuroGentest	Protein UniProt	Clinical Resources Clinical Trials EuroGentest Gene Reviews Genetic Alliance MedlinePlus Genetics GTR GARD OrphaNet	Variation Locus Specific DBs	Animal Models MGI Mouse Phenotype NCBI HomoloGene OMIA	Cell Lines Coriell

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ICD+
SNOMEDCT: 71253000 ORPHA: 309246 DO: 4795

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Search: 272750 613109 (Search in: MIM number)

Results: 2 entries.

* 613109. GM2 ACTIVATOR; GM2A
Cytogenetic location: 5q33.1, Genomic coordinates (GRCh38): 5:151,253,185-151,270,440
Matching terms: 613109

# 272750. GM2-GANGLIOSIDOSIS, AB VARIANT
Cytogenetic location: 5q33.1
Matching terms: 272750

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