rs1476157529 Rat Genome Database

rs1476157529 Rat Genome Database

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Variant: rs1476157529 - Homo sapiens

RGD ID:

8559984

RS ID:

rs1476157529

ClinVar ID:

CV22567

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	5	140,903,709
GRCh38	5	141,524,142

JBrowse:

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Trait Synonyms
NM_001079812.3:c.3634+1G>T NM_001314007.2:c.3661+1G>T NM_005219.5:c.3661+1G>T NG_011594.2:g.99914G>T More...	12/02/2021	splice donor variant	pathogenic	childhood	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)
CV22567	Human	autosomal dominant nonsyndromic deafness 1		IAGP		8554872	ClinVar Annotator: match by term: Deafness, autosomal dominant 1	ClinVar	PMID:17576681\|PMID:28492532\|PMID:9360932\|PMID:9536098
CV22567	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:9360932\|PMID:9536098

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:9360932	PMID:9536098	PMID:17576681	PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000007963	CLINVAR
	RCV001851727	CLINVAR
dbSNP (RS)	rs1476157529	CLINVAR
MedGen	C1852282	CLINVAR
NCBI Gene	DIAPH1	CLINVAR
OMIM	124900	CLINVAR
	602121	CLINVAR
	616632	CLINVAR
OMIM Allele	602121.0001	CLINVAR