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NM_001083962.1:c.947del
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NM_001083962.1:c.947del
HGVS Expressions
NG_011716.1:g.332121del
NM_001083962.1:c.947del
NP_001077431.1:p.Gly316AlafsTer75
NC_000018.10:g.55261510del
Associated Genes
Transcription Factor 4
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CTGA Clinical Significance
Likely Pathogenic
Variant Type
Deletion
Epidemiology in the Arab World
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United Arab Emirates
Subject ID
Country of Origin
Allele Count
Allele Frequency
CTGA Clinical Significance
Condition(s)
Reference
Remarks
610954.1
United Arab Emirates
1
Likely Pathogenic
Pitt-Hopkins Syndrome
Saleh et al. 2021
Germline mosaicism; Similarly affected s...
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Contributors
Pratibha Nair: 08.09.2021
Edit History
Rahila Mir: 09.02.2022
Pratibha Nair: 09.09.2021
Pratibha Nair: 08.09.2021
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