MKS1 Gene

Alternative Names

MKS1
FLJ20345
BBS13 Gene

Length

14,170 bases

No. of Exons

No. of isoforms

Protein Name

Meckel Syndrome Type 1 Protein

Molecular Mass

64528 Da

Amino Acid Count

559

Genomic Location

chr17:58,205,435-58,219,604

Gene Map Locus

17q22

Description

MKS1 gene encodes a protein which is restricted to the basal body and is essential for the development of the primary cilium (including the structure and function) in ciliated epithelial cells.

Epidemiology in the Arab World

View Map

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_001165927.1:c.-17C>G	Saudi Arabia	NC_000017.11:g.58219528G>C		Benign		NG_013032.1:g.5078C>G; NM_001165927.1:c.-17C>G	1969472764
NM_017777.3:c.417+1G>A	Saudi Arabia	chr17:58216087	Likely Pathogenic, Pathogenic	Pathogenic	Meckel Syndrome, Type 1	NG_013032.1:g.8519G>A; NM_017777.3:c.417+1G>A	756368560	191084
NM_017777.4:c.1048C>T	Palestine	chr17:58208560	Likely Pathogenic, Pathogenic	Pathogenic	Meckel Syndrome, Type 1	NG_013032.1:g.16046C>T; NM_017777.4:c.1048C>T; NP_060247.2:p.Gln350Ter	386834041	56614
NM_017777.4:c.1066C>T	Saudi Arabia	chr17:58208542	Likely Pathogenic, Pathogenic	Pathogenic	Meckel Syndrome, Type 1	NG_013032.1:g.16064C>T; NM_017777.4:c.1066C>T; NP_060247.2:p.Gln356Ter	786205508	191083
NM_017777.4:c.1126dup	Saudi Arabia	NC_000017.11:g.58208144dup	Likely Pathogenic, Pathogenic	Pathogenic	Meckel Syndrome, Type 1	NG_013032.1:g.16462dup; NM_017777.4:c.1126dup; NP_060247.2:p.Thr376AsnfsTer3		1252059
NM_017777.4:c.1273+11G>A	Morocco	chr17:58207883	Benign, Likely Benign	Likely Benign	Meckel Syndrome, Type 1	NG_013032.1:g.16723G>A; NM_017777.4:c.1273+11G>A	16942826	260880
NM_017777.4:c.262-27A>G	Saudi Arabia	NC_000017.11:g.58216270T>C		Benign		NG_013032.1:g.8336A>G; NM_017777.4:c.262-27A>G	191488115
NM_017777.4:c.367C>T	Saudi Arabia	NC_000017.11:g.58216138G>A	Pathogenic	Pathogenic	Meckel Syndrome, Type 1	NG_013032.1:g.8468C>T; NM_017777.4:c.367C>T; NP_060247.2:p.Arg123Ter	762482919	917949
NM_017777.4:c.-46_80del	Saudi Arabia	NC_000017.11:g.58219151_58219276del		Uncertain Significance	Bardet-Biedl Syndrome 13	NG_013032.1:g.5330_5455del; NM_017777.4:c.-46_80del
NM_017777.4:c.515+12C>T	Palestine; Saudi Arabi...	chr17:58214729	Benign, Likely Benign	Benign, Likely Benign	Meckel Syndrome, Type 1	NG_013032.1:g.9877C>T; NM_017777.4:c.515+12C>T	372527189	260885
NM_017777.4:c.515+1G>A	Kuwait; Saudi Arabia	chr17:58214740	Likely Pathogenic, Pathogenic	Benign, Pathogenic	Meckel Syndrome, Type 1	NG_013032.1:g.9866G>A; NM_017777.4:c.515+1G>A	201933838	56624

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External Links

http://ghr.nlm.nih.gov/gene/MKS1 https://www.genecards.org/cgi-bin/carddisp.pl?gene=mks1

Contributors

Asha Deepthi: 02.02.2022
Sayeeda Hana: 06.12.2016
Sayeeda Hana: 22.08.2016
Tasneem Obeid: 15.08.2010
Lina Walid: 21.06.2010

Edit History

Sayeeda Hana: 20.07.2022
Asha Deepthi: 02.02.2022
Sayeeda Hana: 16.09.2020
Sami Bizzari: 27.03.2017
Tasneem Obeid: 14.04.2011
Lina Walid: 08.07.2010

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