rs118204012 Rat Genome Database

rs118204012 Rat Genome Database

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Variant: rs118204012 - Homo sapiens

RGD ID:

8595456

RS ID:

rs118204012

ClinVar ID:

CV16713

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	12	58,159,103
GRCh38	12	57,765,320

JBrowse:

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NG_007076.1:g.6874A>G NC_000012.12:g.57765320T>C NC_000012.11:g.58159103T>C NP_000776.1:p.Glu189Gly O15528:p.Glu189Gly NM_000785.4:c.566A>G More...	05/30/2024	missense\|missense variant	pathogenic\|uncertain significance	neonatal/infancy	1-5 / 10 000	PDDR IA; PSEUDOVITAMIN D-DEFICIENCY RICKETS, TYPE IA; VITAMIN D HYDROXYLATION-DEFICIENT RICKETS, TYPE 1A

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV16713	Human	vitamin D-dependent rickets type 1A		IAGP		8554872	ClinVar Annotator: match by term: Vitamin D-dependent rickets and type 1A	ClinVar	PMID:12050193 more ...

Gene Symbol:	CYP27B1
Accession:	NM_000785
Location:	EXON
Amino Acid Prediction:	E to G (nonsynonymous)
Amino Acid Position:	189

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

ClinVar GRCh37	ClinVar GRCh38

PMID:12050193	PMID:22190362	PMID:23444327	PMID:23483640	PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV000001741	CLINVAR
dbSNP (RS)	rs118204012	CLINVAR
MedGen	CN283242	CLINVAR
NCBI Gene	CYP27B1	CLINVAR
OMIM	264700	CLINVAR
	609506	CLINVAR
OMIM Allele	609506.0017	CLINVAR