rs886060024 Rat Genome Database

rs886060024 Rat Genome Database

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Variant: rs886060024 - Homo sapiens

RGD ID:

11650335

RS ID:

rs886060024

ClinVar ID:

CV301341

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

DIAPH1 LOC127404089

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	5	140,894,764
GRCh38	5	141,515,197

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000005.10:g.141515197G>C NC_000005.9:g.140894764G>C NM_001079812.3:c.*1654C>G NG_000012.2:g.225394G>C More...	01/13/2018	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)
CV301341	Human	autosomal dominant nonsyndromic deafness 1		IAGP		8554872	ClinVar Annotator: match by term: Deafness, autosomal dominant 1	ClinVar

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

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

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

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

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV000292152	CLINVAR
dbSNP (RS)	rs886060024	CLINVAR
MedGen	C1852282	CLINVAR
NCBI Gene	DIAPH1	CLINVAR
OMIM	124900	CLINVAR
	602121	CLINVAR