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NM_153704.5:c.2439G>A
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NM_153704.5:c.2439G>A
HGVS Expressions
NG_009190.1:g.55035G>A
NM_153704.5:c.2439G>A
NP_714915.3:p.Ala813=
NC_000008.11:g.93804878G>A
Associated Genes
Transmembrane Protein 67
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Clinvar Clinical Significance
Pathogenic
CTGA Clinical Significance
Likely Pathogenic
Variant Type
Substitution
dbSNP
201791586
Clinvar
1252093
Epidemiology in the Arab World
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Morocco
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
607361.3
Morocco
1
Likely Pathogenic
Meckel Syndrome, Type 3
Khaddour et al. 2007
Patient is compound heterozygous for the...
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Contributors
Sami Bizzari: 17.05.2020
Edit History
Pratibha Nair: 21.11.2022
Rahila Mir: 14.02.2022
Sami Bizzari: 23.06.2020
Sami Bizzari: 17.05.2020
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