rs759208930 Rat Genome Database

rs759208930 Rat Genome Database

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Variant: rs759208930 - Homo sapiens

RGD ID:

329846690

RS ID:

rs759208930

ClinVar ID:

CV262266

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	12	58,157,449
GRCh38	12	57,763,666

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_000785.4:c.1358G>A NM_000785.3:c.1358G>A NG_007076.1:g.8528G>A NC_000012.12:g.57763666C>T More...	03/23/2023	missense variant	likely pathogenic\|uncertain significance	AllHighlyPenetrant; CYP27B1-related condition; none provided; PDDR IA; PSEUDOVITAMIN D-DEFICIENCY RICKETS, TYPE IA; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV262266	Human	vitamin D-dependent rickets type 1A		IAGP		8554872	ClinVar Annotator: match by term: CYP27B1-related condition	ClinVar	PMID:20926527 more ...

Gene Symbol:	CYP27B1
Accession:	NM_000785
Location:	EXON
Amino Acid Prediction:	R to H (nonsynonymous)
Amino Acid Position:	453

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTQTLKYASRVFHRVRWAPELGASLGYREYHSARRSLADIPGPSTPSFLAELFCKGGLSRLHELQVQGAAHFGPVWLASF GTVRTVYVAAPALVEELLRQEGPRPERCSFSPWTEHRRCRQRACGLLTAEGEEWQRLRSLLAPLLLRPQAAARYAGTLNN VVCDLVRRLRRQRGRGTGPPALVRDVAGEFYKFGLEGIAAVLLGSRLGCLEAQVPPDTETFIRAVGSVFVSTLLTMAMPH WLRHLVPGPWGRLCRDWDQMFAFAQRHVERREAEAAMRNGGQPEKDLESGAHLTHFLFREELPAQSILGNVTELLLAGVD TVSNTLSWALYELSRHPEVQTALHSEITAALSPGSSAYPSATVLSQLPLLKAVVKEVLRLYPVVPGNSRVPDKDIHVGDY IIPKNTLVTLCHYATSRDPAQFPEPNSFRPARWLGEGPTPHPFASLPFGFGKHSCMGRRLAELELQMALAQILTHFEVQP EPGAAPVRPKTRTVLVPERSINLQFLDR*

ClinVar GRCh37	ClinVar GRCh38

PMID:20926527	PMID:25741868	PMID:28492532	PMID:36321535

Database	Acc Id	Source(s)
ClinVar	RCV003226270	CLINVAR
	RCV003417870	CLINVAR
	RCV003556305	CLINVAR
	RCV005008226	CLINVAR
dbSNP (RS)	rs759208930	CLINVAR
MedGen	C3661900	CLINVAR
	CN169374	CLINVAR
	CN283242	CLINVAR
NCBI Gene	CYP27B1	CLINVAR
OMIM	264700	CLINVAR
	609506	CLINVAR