rs1562319896 Rat Genome Database

rs1562319896 Rat Genome Database

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Variant: rs1562319896 - Homo sapiens

RGD ID:

14693757

RS ID:

rs1562319896

ClinVar ID:

CV620188

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

-

Position

Assembly	Chr	Position
GRCh37	5	140,953,111
GRCh38	5	141,573,544

JBrowse:

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001079812.3:c.2280del NM_001314007.2:c.2307del NM_005219.5:c.2307del NG_011594.2:g.50513del More...	09/14/2017	frameshift 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)
CV620188	Human	autosomal dominant nonsyndromic deafness 1		IAGP		8554872	ClinVar Annotator: match by term: Deafness, autosomal dominant 1	ClinVar

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV000779464	CLINVAR
dbSNP (RS)	rs1562319896	CLINVAR
MedGen	C1852282	CLINVAR
NCBI Gene	DIAPH1	CLINVAR
OMIM	124900	CLINVAR
	602121	CLINVAR