rs7116967 Rat Genome Database

rs7116967 Rat Genome Database

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Variant: rs7116967 - Homo sapiens

RGD ID:

8660041

RS ID:

rs7116967

ClinVar ID:

CV135046

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC130006596 MED17

Reference Nucleotide:

C

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	11	93,517,874
GRCh38	11	93,784,708

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_028028.1:g.5470C>G NC_000011.10:g.93784708C>G NC_000011.9:g.93517874C>G NP_004259.3:p.Gly65= More...	07/10/2021	synonymous variant	benign	AllHighlyPenetrant; Microcephaly, postnatal progressive, with seizures and brain atrophy; none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV135046	Human	infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly		IAGP		8554872	ClinVar Annotator: match by term: Microcephaly more ...	ClinVar	PMID:18414213 more ...

Gene Symbol:	MED17
Accession:	NM_004268
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	65

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSGVRAVRISIESACEKQVHEVGLDGTETYLPPLSMSQNLARLAQRIDFSQGSGSEEEEAAGTEGDAQEWPGAGSSADQD DEEGVVKFQPSLWPWDSVRNNLRSALTEMCVLYDVLSIVRDKKFMTLDPVSQDALPPKQNPQTLQLISKKKSLAGAAQIL LKGAERLTKSVTENQENKLQRDFNSELLRLRQHWKLRKVGDKILGDLSYRSAGSLFPHHGTFEVIKNTDLDLDKKIPEDY CPLDVQIPSDLEGSAYIKVSIQKQAPDIGDLGTVNLFKRPLPKSKPGSPHWQTKLEAAQNVLLCKEIFAQLSREAVQIKS QVPHIVVKNQIISQPFPSLQLSISLCHSSNDKKSQKFATEKQCPEDHLYVLEHNLHLLIREFHKQTLSSIMMPHPASAPF GHKRMRLSGPQAFDKNEINSLQSSEGLLEKIIKQAKHIFLRSRAAATIDSLASRIEDPQIQAHWSNINDVYESSVKVLIT SQGYEQICKSIQLQLNIGVEQIRVVHRDGRVITLSYQEQELQDFLLSQMSQHQVHAVQQLAKVMGWQVLSFSNHVGLGPI ESIGNASAITVASPSGDYAISVRNGPESGSKIMVQFPRNQCKDLPKSDVLQDNKWSHLRGPFKEVQWNKMEGRNFVYKME LLMSALSPCLL*

ClinVar GRCh37	ClinVar GRCh38

PMID:18414213	PMID:25741868	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000117608	CLINVAR
	RCV000600983	CLINVAR
	RCV001510012	CLINVAR
dbSNP (RS)	rs7116967	CLINVAR
MedGen	C3150921	CLINVAR
	C3661900	CLINVAR
	CN169374	CLINVAR
NCBI Gene	LOC130006596	CLINVAR
	MED17	CLINVAR
OMIM	603810	CLINVAR
	613668	CLINVAR