Entry Search - 601058 601128 619720 619721

Search: '601058 601128 619720 619721 (Search in: MIM number)'

Results: 4 entries.

# 619720. BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
Cytogenetic location: 1q42.12
Matching terms: 619720
► Phenotype-Gene Relationships ► Phenotypic Series ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
1q42.12	Bryant-Li-Bhoj neurodevelopmental syndrome 1	619720	AD	3	H3-3A	601128

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Bryant-Li-Bhoj neurodevelopmental syndrome - PS619720 - 2 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q42.12	Bryant-Li-Bhoj neurodevelopmental syndrome 1	AD	3	619720	H3-3A	601128
17q25.1	Bryant-Li-Bhoj neurodevelopmental syndrome 2	AD	3	619721	H3-3B	601058

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Links
Testing GTR	Protein UniProt	Clinical Resources Clinical Trials Gene Reviews GTR	Animal Models NCBI HomoloGene

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* 601058. H3 HISTONE, FAMILY 3B; H3F3B
Cytogenetic location: 17q25.1, Genomic coordinates (GRCh38): 17:75,776,434-75,779,779
Matching terms: 601058
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
17q25.1	Bryant-Li-Bhoj neurodevelopmental syndrome 2	619721	AD	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 GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene Wormbase Gene WBGene00001945 WBGene00001946	Cellular Pathways KEGG Reactome

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* 601128. H3 HISTONE, FAMILY 3A; H3F3A
Cytogenetic location: 1q42.12, Genomic coordinates (GRCh38): 1:226,061,831-226,072,019
Matching terms: 601128
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q42.12	Bryant-Li-Bhoj neurodevelopmental syndrome 1	619720	AD	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 NCBI Gene UCSC	Clinical Resources ClinGen Validity GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS	Animal Models FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI HomoloGene Wormbase Gene WBGene00001945 WBGene00001946 ZFin	Cellular Pathways KEGG Reactome

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# 619721. BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
Cytogenetic location: 17q25.1
Matching terms: 619721
► Phenotype-Gene Relationships ► Phenotypic Series ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
17q25.1	Bryant-Li-Bhoj neurodevelopmental syndrome 2	619721	AD	3	H3-3B	601058

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Bryant-Li-Bhoj neurodevelopmental syndrome - PS619720 - 2 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q42.12	Bryant-Li-Bhoj neurodevelopmental syndrome 1	AD	3	619720	H3-3A	601128
17q25.1	Bryant-Li-Bhoj neurodevelopmental syndrome 2	AD	3	619721	H3-3B	601058

▲ Close

Links
Testing GTR	Protein UniProt	Clinical Resources Clinical Trials Gene Reviews GTR	Animal Models NCBI HomoloGene

▲ Close

Search: 601058 601128 619720 619721 (Search in: MIM number)

Results: 4 entries.

# 619720. BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 1; BRYLIB1
Cytogenetic location: 1q42.12
Matching terms: 619720

* 601058. H3 HISTONE, FAMILY 3B; H3F3B
Cytogenetic location: 17q25.1, Genomic coordinates (GRCh38): 17:75,776,434-75,779,779
Matching terms: 601058

* 601128. H3 HISTONE, FAMILY 3A; H3F3A
Cytogenetic location: 1q42.12, Genomic coordinates (GRCh38): 1:226,061,831-226,072,019
Matching terms: 601128

# 619721. BRYANT-LI-BHOJ NEURODEVELOPMENTAL SYNDROME 2; BRYLIB2
Cytogenetic location: 17q25.1
Matching terms: 619721

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Printed: May 17, 2024