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

607968

NCBI Gene ID

27241

Uniprot ID

Q3SYG4

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

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_198428.3:c.(443-1675_443-1116)_(618-986_618-508)delSaudi ArabiaNC_000007.14:g.(33255561_33256120)_(33263304_33263782)delPathogenicBardet-Biedl Syndrome 9NG_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>ASaudi ArabiaNC_000007.14:g.33336535G>AUncertain SignificanceBenignNG_009306.2:g.212292G>A; NM_198428.3:c.1111G>A; NP_940820.1:p.Val371Ile13663559661490103
NM_198428.3:c.1432+47T>ASaudi ArabiaNC_000007.14:g.33349217T>ABenignBenignNG_009306.2:g.224974T>A; NM_198428.3:c.1432+47T>A73101660263118
NM_198428.3:c.1546C>ASaudi Arabia; United A...NC_000007.14:g.33352867C>ABenignBenignNG_009306.2:g.228624C>A; NM_198428.3:c.1546C>A; NP_940820.1:p.Pro516Thr73688160263119
NM_198428.3:c.1693+102G>ASaudi Arabia; United A...NC_000007.14:g.33358097G>ABenignNG_009306.2:g.233854G>A; NM_198428.3:c.1693+102G>A; NP_940820.1:p.?
NM_198428.3:c.2258A>TLebanonchr7:33505605Likely Benign, Likely PathogenicPathogenicBardet-Biedl Syndrome 9NG_009306.2:g.381362A>T; NM_198428.3:c.2258A>T; NP_940820.1:p.Glu753Val61764068383539
NM_198428.3:c.2522-33T>CSaudi ArabiaNC_000007.14:g.33604832T>CBenignNG_009306.2:g.480589T>C; NM_198428.3:c.2522-33T>C
NM_198428.3:c.263C>ASaudi ArabiaNC_000007.14:g.33152851C>APathogenicPathogenicBardet-Biedl Syndrome 9NG_009306.2:g.28608C>A; NM_198428.3:c.263C>A; NP_940820.1:p.Ser88Ter749974697191219
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