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NM_170784.3:c.1646T>C
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NM_170784.3:c.1646T>C
HGVS Expressions
NG_009109.2:g.33905T>C
NM_170784.3:c.1646T>C
NP_740754.1:p.Leu549Pro
NC_000020.11:g.10405314A>G
Associated Genes
MKKS Gene
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
Epidemiology in the Arab World
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Saudi Arabia
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
605231.4.1
Saudi Arabia
2
Likely Pathogenic
Bardet-Biedl syndrome 6
Aldahmesh et al. 2014
605231.4.2
Saudi Arabia
2
Likely Pathogenic
Bardet-Biedl syndrome 6
Aldahmesh et al. 2014
Sibling of 605231.4.1
605231.4.3
Saudi Arabia
2
Likely Pathogenic
Bardet-Biedl syndrome 6
Aldahmesh et al. 2014
Sibling of 605231.4.1
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Contributors
Pratibha Nair: 03.10.2022
Edit History
Pratibha Nair: 03.10.2022
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