rs886060031 Rat Genome Database

rs886060031 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: rs886060031 - Homo sapiens

RGD ID:

11653415

RS ID:

rs886060031

ClinVar ID:

CV297501

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DIAPH1 LOC127404090

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	5	140,895,885
GRCh38	5	141,516,318

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000005.10:g.141516318C>T NC_000005.9:g.140895885C>T NM_001079812.3:c.533G>A NM_005219.5:c.533G>A More...	01/12/2018	3 prime utr variant	uncertain significance	Deafness, autosomal dominant 1; DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA; KONIGSMARK SYNDROME

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV297501	Human	autosomal dominant nonsyndromic deafness 1		IAGP		8554872	ClinVar Annotator: match by term: Deafness, autosomal dominant 1	ClinVar

Gene Symbol:	DIAPH1
Accession:	XM_047416885
Location:	3UTRS;EXON

Gene Symbol:	DIAPH1
Accession:	NM_001314007
Location:	3UTRS;EXON

Gene Symbol:	DIAPH1
Accession:	XM_047416884
Location:	3UTRS;EXON

Gene Symbol:	DIAPH1
Accession:	NM_001079812
Location:	3UTRS;EXON

Gene Symbol:	DIAPH1
Accession:	NM_005219
Location:	3UTRS;EXON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV000310961	CLINVAR
dbSNP (RS)	rs886060031	CLINVAR
MedGen	C1852282	CLINVAR
NCBI Gene	DIAPH1	CLINVAR
OMIM	124900	CLINVAR
	602121	CLINVAR