MKS1 Gene

Alternative Names

  • MKS1
  • FLJ20345
  • BBS13 Gene
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OMIM Number

609883

NCBI Gene ID

54903

Uniprot ID

Q9NXB0

Length

14,170 bases

No. of Exons

20

No. of isoforms

3

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 NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_001165927.1:c.-17C>GSaudi ArabiaNC_000017.11:g.58219528G>CBenignNG_013032.1:g.5078C>G; NM_001165927.1:c.-17C>G1969472764
NM_017777.3:c.417+1G>ASaudi Arabiachr17:58216087Likely Pathogenic, PathogenicPathogenicMeckel Syndrome, Type 1NG_013032.1:g.8519G>A; NM_017777.3:c.417+1G>A756368560191084
NM_017777.4:c.1048C>TPalestinechr17:58208560Likely Pathogenic, PathogenicPathogenicMeckel Syndrome, Type 1NG_013032.1:g.16046C>T; NM_017777.4:c.1048C>T; NP_060247.2:p.Gln350Ter38683404156614
NM_017777.4:c.1066C>TSaudi Arabiachr17:58208542Likely Pathogenic, PathogenicPathogenicMeckel Syndrome, Type 1NG_013032.1:g.16064C>T; NM_017777.4:c.1066C>T; NP_060247.2:p.Gln356Ter786205508191083
NM_017777.4:c.1126dupSaudi ArabiaNC_000017.11:g.58208144dupLikely Pathogenic, PathogenicPathogenicMeckel Syndrome, Type 1NG_013032.1:g.16462dup; NM_017777.4:c.1126dup; NP_060247.2:p.Thr376AsnfsTer31252059
NM_017777.4:c.1273+11G>AMoroccochr17:58207883Benign, Likely BenignLikely BenignMeckel Syndrome, Type 1NG_013032.1:g.16723G>A; NM_017777.4:c.1273+11G>A16942826260880
NM_017777.4:c.262-27A>GSaudi ArabiaNC_000017.11:g.58216270T>CBenignNG_013032.1:g.8336A>G; NM_017777.4:c.262-27A>G191488115
NM_017777.4:c.367C>TSaudi ArabiaNC_000017.11:g.58216138G>APathogenicPathogenicMeckel Syndrome, Type 1NG_013032.1:g.8468C>T; NM_017777.4:c.367C>T; NP_060247.2:p.Arg123Ter762482919917949
NM_017777.4:c.-46_80delSaudi ArabiaNC_000017.11:g.58219151_58219276delUncertain SignificanceBardet-Biedl Syndrome 13NG_013032.1:g.5330_5455del; NM_017777.4:c.-46_80del
NM_017777.4:c.515+12C>TPalestine; Saudi Arabi...chr17:58214729Benign, Likely BenignBenign, Likely BenignMeckel Syndrome, Type 1NG_013032.1:g.9877C>T; NM_017777.4:c.515+12C>T372527189260885
NM_017777.4:c.515+1G>AKuwait; Saudi Arabiachr17:58214740Likely Pathogenic, PathogenicBenign, PathogenicMeckel Syndrome, Type 1NG_013032.1:g.9866G>A; NM_017777.4:c.515+1G>A20193383856624
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