rs773918503 Rat Genome Database

rs773918503 Rat Genome Database

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Variant: rs773918503 - Homo sapiens

RGD ID:

38465022

RS ID:

rs773918503

ClinVar ID:

CV944434

Genic Status:

GENIC

Type:

insertion (SO:0000667)

Associated Genes:

Reference Nucleotide:

-

Variant Nucleotide:

GGAGGT

Position

Assembly	Chr	Position
GRCh37	5	140,953,558
GRCh38	5	141,573,991

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001079812.3:c.1827_1832dup NM_001314007.2:c.1854_1859dup NM_005219.5:c.1854_1859dup NP_005210.3:p.Pro619_Pro620dup More...	11/30/2022	inframe_insertion	uncertain significance	Deafness, autosomal dominant 1; DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA; KONIGSMARK SYNDROME; none provided; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM; Seizures, cortical blindness, and microcephaly syndrome

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV944434	Human	autosomal dominant nonsyndromic deafness 1		IAGP		8554872	ClinVar Annotator: match by term: Deafness, autosomal dominant 1	ClinVar	PMID:28492532
CV944434	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP		8554872	ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome	ClinVar	PMID:28492532

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001237560	CLINVAR
	RCV003232259	CLINVAR
dbSNP (RS)	rs773918503	CLINVAR
MedGen	C1852282	CLINVAR
	C3661900	CLINVAR
NCBI Gene	DIAPH1	CLINVAR
OMIM	124900	CLINVAR
	602121	CLINVAR
	616632	CLINVAR