RGD:155981200 Rat Genome Database

RGD:155981200 Rat Genome Database

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Variant: RGD:155981200 - Homo sapiens

RGD ID:

155981200

ClinVar ID:

CV2163094

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	5	140,908,851
GRCh38	5	141,529,284

JBrowse:

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_1117t1:c.2650-11C>G LRG_1117t2:c.2677-11C>G NM_001079812.3:c.2650-11C>G NM_001314007.2:c.2677-11C>G More...	03/09/2022	intron variant	likely benign	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)
CV2163094	Human	autosomal dominant nonsyndromic deafness 1		IAGP		8554872	ClinVar Annotator: match by term: Deafness, autosomal dominant 1	ClinVar	PMID:28492532
CV2163094	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP		8554872	ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome	ClinVar	PMID:28492532

Gene Symbol:	DIAPH1
Accession:	NM_001079812
Location:	INTRON

Gene Symbol:	DIAPH1
Accession:	NM_005219
Location:	INTRON

Gene Symbol:	DIAPH1
Accession:	NM_001314007
Location:	INTRON

Gene Symbol:	DIAPH1
Accession:	XM_047416885
Location:	INTRON

Gene Symbol:	DIAPH1
Accession:	XM_047416884
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV003033888	CLINVAR
MedGen	C1852282	CLINVAR
NCBI Gene	DIAPH1	CLINVAR
OMIM	124900	CLINVAR
	602121	CLINVAR
	616632	CLINVAR