rs150187679 Rat Genome Database

rs150187679 Rat Genome Database

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Variant: rs150187679 - Homo sapiens

RGD ID:

11636410

RS ID:

rs150187679

ClinVar ID:

CV268573

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

TBCE

Reference Nucleotide:

C

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	1	235,582,862
GRCh38	1	235,419,547

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_009230.1:g.57135C>G NC_000001.11:g.235419547C>G NC_000001.10:g.235582862C>G NP_001072983.1:p.Ala149Gly More...	08/19/2022	missense variant	uncertain significance	HRD syndrome; Hypoparathyroidism with short stature, mental retardation and seizures; Hypoparathyroidism, congenital, associated with dysmorphism, growth retardation and developmental delay; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Sanjad-Sakati syndrome

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV268573	Human	hypoparathyroidism-retardation-dysmorphism syndrome		IAGP		8554872	ClinVar Annotator: match by term: Hypoparathyroidism-retardation-dysmorphism syndrome	ClinVar	PMID:25741868 and PMID:28492532

Gene Symbol:	TBCE
Accession:	NM_001079515
Location:	EXON
Amino Acid Prediction:	A to G (nonsynonymous)
Amino Acid Position:	149

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSDTLTADVIGRRVEVNGEHATVRFAGVVPPVAGPWLGVEWDNPERGKHDGSHEGTVYFKCRHPTGGSFIRPNKVNFGTD FLTAIKNRYVLEDGPEEDRKEQIVTIGNKPVETIGFDSIMKQQSQLSKLQEVSLRNCAVSCAGEKGGVGEACPNIRKVDL SKNLLSSWDEVIHIADQLRHLEVLNVSENKLKFPSGSVLTGTLSVLKVLVLNQTGITWAEVLRCVAGCPGLEELYLESNN IFISERPTDVLQTVKLLDLSSNQLIDENQLYLIAHLPRLEQLILSDTGISSLHFPDAGIGCKTSMFPSLKYLVVNDNQIS QWSFFNELEKLPSLRALSCLRNPLTKEDKEAETARLLIIASIGQLKTLNKCEILPEERRRAELDYRKAFGNEWKQAGGHK DPEKNRLSEEFLTAHPRYQFLCLKYGAPEDWELKTQQPLMLKNQLLTLKIKYPHQLDQKVLEKQLPGSMTIQKVKGLLSR LLKVPVSDLLLSYESPKKPGREIELENDLKSLQFYSVENGDCLLVRW*

Gene Symbol:	TBCE
Accession:	NM_003193
Location:	EXON
Amino Acid Prediction:	A to G (nonsynonymous)
Amino Acid Position:	149

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSDTLTADVIGRRVEVNGEHATVRFAGVVPPVAGPWLGVEWDNPERGKHDGSHEGTVYFKCRHPTGGSFIRPNKVNFGTD FLTAIKNRYVLEDGPEEDRKEQIVTIGNKPVETIGFDSIMKQQSQLSKLQEVSLRNCAVSCAGEKGGVGEACPNIRKVDL SKNLLSSWDEVIHIADQLRHLEVLNVSENKLKFPSGSVLTGTLSVLKVLVLNQTGITWAEVLRCVAGCPGLEELYLESNN IFISERPTDVLQTVKLLDLSSNQLIDENQLYLIAHLPRLEQLILSDTGISSLHFPDAGIGCKTSMFPSLKYLVVNDNQIS QWSFFNELEKLPSLRALSCLRNPLTKEDKEAETARLLIIASIGQLKTLNKCEILPEERRRAELDYRKAFGNEWKQAGGHK DPEKNRLSEEFLTAHPRYQFLCLKYGAPEDWELKTQQPLMLKNQLLTLKIKYPHQLDQKVLEKQLPGSMTIQKVKGLLSR LLKVPVSDLLLSYESPKKPGREIELENDLKSLQFYSVENGDCLLVRW*

Gene Symbol:	TBCE
Accession:	NM_001287802
Location:	EXON
Amino Acid Prediction:	A to G (nonsynonymous)
Amino Acid Position:	36

Amino Acid Sequence (Calculated using NCBI transcript definition)
MYPCELCFSCSQLSKLQEVSLRNCAVSCAGEKGGVGEACPNIRKVDLSKNLLSSWDEVIHIADQLRHLEVLNVSENKLKF PSGSVLTGTLSVLKVLVLNQTGITWAEVLRCVAGCPGLEELYLESNNIFISERPTDVLQTVKLLDLSSNQLIDENQLYLI AHLPRLEQLILSDTGISSLHFPDAGIGCKTSMFPSLKYLVVNDNQISQWSFFNELEKLPSLRALSCLRNPLTKEDKEAET ARLLIIASIGQLKTLNKCEILPEERRRAELDYRKAFGNEWKQAGGHKDPEKNRLSEEFLTAHPRYQFLCLKYGAPEDWEL KTQQPLMLKNQLLTLKIKYPHQLDQKVLEKQLPGSMTIQKVKGLLSRLLKVPVSDLLLSYESPKKPGREIELENDLKSLQ FYSVENGDCLLVRW*

Gene Symbol:	TBCE
Accession:	NM_001287801
Location:	EXON
Amino Acid Prediction:	A to G (nonsynonymous)
Amino Acid Position:	149

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSDTLTADVIGRRVEVNGEHATVRFAGVVPPVAGPWLGVEWDNPERGKHDGSHEGTVYFKCRHPTGGSFIRPNKVNFGTD FLTAIKNRYVLEDGPEEDRKEQIVTIGNKPVETIGFDSIMKQQSQLSKLQEVSLRNCAVSCAGEKGGVGEACPNIRKVDL SKNLLSSWDEVIHIADQLRHLEVLNVSENKLKFPSGSVLTGTLSVLKVLVLNQTGITWAEAHAQCGGSRHGLDMQKDASK FVDLCVLQKCSTSNCIISAKDHTSMRMNVAKVLRCVAGCPGLEELYLESNNIFISERPTDVLQTVKLLDLSSNQLIDENQ LYLIAHLPRLEQLILSDTGISSLHFPDAGIGCKTSMFPSLKYLVVNDNQISQWSFFNELEKLPSLRALSCLRNPLTKEDK EAETARLLIIASIGQLKTLNKCEILPEERRRAELDYRKAFGNEWKQAGGHKDPEKNRLSEEFLTAHPRYQFLCLKYGAPE DWELKTQQPLMLKNQLLTLKIKYPHQLDQKVLEKQLPGSMTIQKVKGLLSRLLKVPVSDLLLSYESPKKPGREIELENDL KSLQFYSVENGDCLLVRW*

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000268210	CLINVAR
	RCV001099440	CLINVAR
dbSNP (RS)	rs150187679	CLINVAR
MedGen	C1855840	CLINVAR
	C3661900	CLINVAR
NCBI Gene	TBCE	CLINVAR
OMIM	241410	CLINVAR
	604934	CLINVAR