Parathyroid Hormone-Responsive B1 Gene - CAGS

Parathyroid Hormone-Responsive B1 Gene

Alternative Names

PTH-Responsive B1 Gene
B1
PTHB1
BBS9 Gene
BBS9

Associated Diseases

Bardet-Biedl Syndrome 9

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OMIM Number

NCBI Gene ID

Uniprot ID

Length

767,624 bases

No. of Exons

30

No. of isoforms

7

Protein Name

Protein PTHB1

Molecular Mass

99280 Da

Amino Acid Count

887

Genomic Location

chr7:33,129,243-33,637,237

Gene Map Locus

7p14.3

Description

This gene is downregulated by parathyroid hormone in osteoblastic cells, and therefore is thought to be involved in parathyroid hormone action in bones. [From RefSeq]

Epidemiology in the Arab World

Variant Name	Country	Genomic Location	Clinvar Clinical Significance	CTGA Clinical Significance	Condition(s)	HGVS Expressions	dbSNP	Clinvar
NM_198428.3:c.(443-1675_443-1116)_(618-986_618-508)del	Saudi Arabia	NC_000007.14:g.(33255561_33256120)_(33263304_33263782)del		Pathogenic	Bardet-Biedl Syndrome 9	NG_009306.2:g.(131318_131877)_(139061_139539)del ; NM_198428.3:c.(443-1675_443-1116)_(618-986_618-508)del
NM_198428.3:c.1111G>A	Saudi Arabia	NC_000007.14:g.33336535G>A	Uncertain Significance	Benign		NG_009306.2:g.212292G>A; NM_198428.3:c.1111G>A; NP_940820.1:p.Val371Ile	1366355966	1490103
NM_198428.3:c.1432+47T>A	Saudi Arabia	NC_000007.14:g.33349217T>A	Benign	Benign		NG_009306.2:g.224974T>A; NM_198428.3:c.1432+47T>A	73101660	263118
NM_198428.3:c.1546C>A	Saudi Arabia; United A...	NC_000007.14:g.33352867C>A	Benign	Benign		NG_009306.2:g.228624C>A; NM_198428.3:c.1546C>A; NP_940820.1:p.Pro516Thr	73688160	263119
NM_198428.3:c.1693+102G>A	Saudi Arabia; United A...	NC_000007.14:g.33358097G>A		Benign		NG_009306.2:g.233854G>A; NM_198428.3:c.1693+102G>A; NP_940820.1:p.?
NM_198428.3:c.2258A>T	Lebanon	chr7:33505605	Likely Benign, Likely Pathogenic	Pathogenic	Bardet-Biedl Syndrome 9	NG_009306.2:g.381362A>T; NM_198428.3:c.2258A>T; NP_940820.1:p.Glu753Val	61764068	383539
NM_198428.3:c.2522-33T>C	Saudi Arabia	NC_000007.14:g.33604832T>C		Benign		NG_009306.2:g.480589T>C; NM_198428.3:c.2522-33T>C

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External Links

https://www.genecards.org/cgi-bin/carddisp.pl?gene=BBS9

Contributors

Sayeeda Hana: 15.10.2020

Edit History

Sami Bizzari: 22.11.2022
Sayeeda Hana: 20.07.2022
Sayeeda Hana: 15.10.2020

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© CAGS 2024. All rights reserved.

© CAGS 2024. All rights reserved.