RGD:155910574 Rat Genome Database

RGD:155910574 Rat Genome Database

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Variant: RGD:155910574 - Homo sapiens

RGD ID:

155910574

ClinVar ID:

CV2156994

Genic Status:

GENIC

Type:

insertion (SO:0000667)

Associated Genes:

Reference Nucleotide:

-

Variant Nucleotide:

CA

Position

Assembly	Chr	Position
GRCh37	5	140,953,066
GRCh38	5	141,573,499

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_1117t1:c.2323_2324dup LRG_1117t2:c.2350_2351dup NM_001079812.3:c.2323_2324dup NM_001314007.2:c.2350_2351dup More...	08/15/2022	frameshift variant	pathogenic	Deafness, autosomal dominant 1; DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA; KONIGSMARK SYNDROME; Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome; Seizures, cortical blindness, and microcephaly syndrome

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV2156994	Human	autosomal dominant nonsyndromic deafness 1		IAGP		8554872	ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA	ClinVar	PMID:24781755\|PMID:26463574\|PMID:28492532
CV2156994	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP		8554872	ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome	ClinVar	PMID:24781755\|PMID:26463574\|PMID:28492532

ClinVar GRCh37	ClinVar GRCh38

PMID:24781755	PMID:26463574	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003012221	CLINVAR
MedGen	C1852282	CLINVAR
NCBI Gene	DIAPH1	CLINVAR
OMIM	124900	CLINVAR
	602121	CLINVAR
	616632	CLINVAR