NM_000115.5:c.914G>A - CAGS

NM_000115.5:c.914G>A

HGVS Expressions

NG_011630.3:g.78629G>A
NM_000115.5:c.914G>A
NP_000106.1:p.Ser305Asn
NC_000013.11:g.77901095C>T

Associated Genes

Endothelin Receptor, Type B

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Clinvar Clinical Significance

Benign, Likely Benign, Uncertain Significance

CTGA Clinical Significance

Likely Benign

Variant Type

Substitution

dbSNP

Clinvar

Epidemiology in the Arab World

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Search:

Subject ID	Country of Origin	Allele Count	CTGA Clinical Significance	Condition(s)	Reference	Remarks
235730.2.1	Morocco	1	Likely Benign	Shprintzen-Goldberg Craniosynostosis Syndrome	Brooks et al. 1999	The patient had two relatives with confi...
235730.2.2	Morocco	1	Likely Benign		Brooks et al. 1999	Mother of 235730.2.1
235730.2.3	Morocco	1	Likely Benign		Brooks et al. 1999	First cousin, once removed, of 235730.2....
235730.2.4	Morocco	1	Likely Benign		Brooks et al. 1999	First cousin, once removed, of 235730.2....

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Contributors

Sayeeda Hana: 12.11.2020

Edit History

Pratibha Nair: 18.10.2022
Sami Bizzari: 12.09.2022
Sayeeda Hana: 15.11.2020
Sayeeda Hana: 12.11.2020

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© CAGS 2025. All rights reserved.

© CAGS 2025. All rights reserved.