RGD:156005441 Rat Genome Database

RGD:156005441 Rat Genome Database

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Variant: RGD:156005441 - Homo sapiens

RGD ID:

156005441

ClinVar ID:

CV2041904

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DIAPH1 LOC124901091 LOC127404091

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	5	140,896,578
GRCh38	5	141,517,011

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_1117t1:c.3635-3C>T LRG_1117t2:c.3662-3C>T NM_001079812.3:c.3635-3C>T NM_005219.5:c.3662-3C>T More...	06/11/2023	intron variant	uncertain significance	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)
CV2041904	Human	autosomal dominant nonsyndromic deafness 1		IAGP		8554872	ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA	ClinVar	PMID:17576681\|PMID:28492532\|PMID:9536098
CV2041904	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP		8554872	ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome	ClinVar	PMID:17576681\|PMID:28492532\|PMID:9536098

Gene Symbol:	LOC124901091
Accession:	XR_007058971
Location:	EXON;NON-CODING

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:9536098	PMID:17576681	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002756407	CLINVAR
MedGen	C1852282	CLINVAR
NCBI Gene	DIAPH1	CLINVAR
OMIM	124900	CLINVAR
	602121	CLINVAR
	616632	CLINVAR