Transmembrane Protein 94 - CAGS

Transmembrane Protein 94

Alternative Names

TMEM94
KIAA0195

Associated Diseases

Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies

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OMIM Number

NCBI Gene ID

Uniprot ID

Length

59,294 bases

No. of Exons

36

No. of isoforms

3

Protein Name

Transmembrane protein 94

Molecular Mass

151151 Da

Amino Acid Count

1356

Genomic Location

chr17:75,441,158-75,500,451

Gene Map Locus

17q25.1

Epidemiology in the Arab World

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_014738.5:c.810del	Qatar; United Arab Emi...	NC_000017.11:g.75489311del	Pathogenic	Pathogenic	Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies	NG_054884.1:g.53153del; NM_014738.5:c.810del; NP_055553.3:p.Asp270GlufsTer10	1567950778	617668
NM_014738.6:c.2734C>T	Oman	NC_000017.11:g.75495289C>T	Likely Pathogenic	Pathogenic	Intellectual Developmental Disorder with Cardiac Defects and Dysmorphic Facies	NG_054884.1:g.59131C>T; NM_014738.6:c.2734C>T; NP_055553.3:p.Arg912Ter	557746506	617667

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=tmem94

Contributors

Pratibha Nair: 05.09.2023
Pratibha Nair: 05.10.2021

Edit History

Pratibha Nair: 05.09.2023
Pratibha Nair: 05.10.2021

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.