Chromosome 12 Open Reading Frame 57

Alternative Names

C12orf57
C10

Length

2,571 bases

No. of Exons

No. of isoforms

Protein Name

Protein C10

Molecular Mass

13178 Da

Amino Acid Count

126

Genomic Location

chr12:6,943,432-6,946,002

Gene Map Locus

12p13.31

Description

This gene is ubiquitously expressed in human tissues. It is required for development of the human corpus callosum. Mutations in this gene are associated with Temtamy syndrome (TEMTYS). Multiple alternatively spliced transcript variants have been found for this gene [From RefSeq].

Epidemiology in the Arab World

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Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_138425.3:c.229+2T>C	Oman	NC_000012.12:g.6944654T>C	Likely Pathogenic, Uncertain Significance	Pathogenic	Temtamy Syndrome	NG_034262.1:g.5838T>C; NM_138425.3:c.229+2T>C	886041151	279718
NM_138425.3:c.-3_2delinsG	Saudi Arabia	NC_000012.12:g.6944119_6944123delinsG		Pathogenic	Temtamy Syndrome	NG_034262.1:g.5303_5307delinsG ; NM_138425.3:c.-3_2delinsG; NP_612434.1:p.Met1?
NM_138425.4:c.152T>A	Saudi Arabia	NC_000012.12:g.6944575T>A	Pathogenic	Pathogenic	Temtamy Syndrome	NG_034262.1:g.5759T>A; NM_138425.4:c.152T>A; NP_612434.1:p.Leu51Gln	587776955	41943
NM_138425.4:c.1A>G	Kuwait; Libya; Palesti...	NC_000012.12:g.6944122A>G	Likely Pathogenic, Pathogenic	Likely Pathogenic, Pathogenic	Temtamy Syndrome	NG_034262.1:g.5306A>G ; NM_138425.4:c.1A>G; NP_612434.1:p.Met1?	587776954	41942
NM_138425.4:c.33G>C	Jordan	NC_000012.12:g.6944154G>C	Uncertain Significance	Likely Pathogenic	Temtamy Syndrome	NG_034262.1:g.5338G>C; NM_138425.4:c.33G>C; NP_612434.1:p.Leu11Phe	782168213	1017217
NM_138425.4:c.43C>T	Oman; Saudi Arabia	NC_000012.12:g.6944164C>T	Pathogenic	Pathogenic	Temtamy Syndrome	NG_034262.1:g.5348C>T; NM_138425.4:c.43C>T; NP_612434.1:p.Gln15Ter	1565574197	620193
NM_138425.4:c.53-2A>G	Saudi Arabia	NC_000012.12:g.6944474A>G	Pathogenic	Likely Pathogenic, Pathogenic	Temtamy Syndrome	NG_034262.1:g.5658A>G; NM_138425.4:c.53-2A>G	1114167293	242885

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=c12orf57

Contributors

Asha Deepthi: 05.08.2024
Pratibha Nair: 14.09.2023
Pratibha Nair: 15.09.2022
Pratibha Nair: 12.10.2021
Sami Bizzari: 30.08.2021

Edit History

Asha Deepthi: 05.08.2024
Pratibha Nair: 18.12.2023
Pratibha Nair: 14.09.2023
Pratibha Nair: 15.09.2022
Pratibha Nair: 12.10.2021
Sami Bizzari: 30.08.2021
Pratibha Nair: 10.12.2018

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