rs79558427 Rat Genome Database

rs79558427 Rat Genome Database

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Variant: rs79558427 - Homo sapiens

RGD ID:

150488263

RS ID:

rs79558427

ClinVar ID:

CV1237452

Genic Status:

GENIC

Type:

insertion (SO:0000667)

Associated Genes:

Reference Nucleotide:

-

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	5	140,907,267
GRCh38	5	141,527,700

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000005.10:g.141527722dup NC_000005.9:g.140907289dup NM_001314007.2:c.3149-25dup LRG_1117t1:c.3122-25dup More...	08/20/2019	intron variant	benign	Deafness, autosomal dominant 1; DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA; KONIGSMARK SYNDROME; none provided; 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)
CV1237452	Human	autosomal dominant nonsyndromic deafness 1		IAGP		8554872	ClinVar Annotator: match by term: DEAFNESS, AUTOSOMAL DOMINANT 1, WITH OR WITHOUT THROMBOCYTOPENIA	ClinVar	PMID:25741868
CV1237452	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP		8554872	ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome	ClinVar	PMID:25741868

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV001654301	CLINVAR
	RCV002501988	CLINVAR
dbSNP (RS)	rs79558427	CLINVAR
MedGen	C1852282	CLINVAR
	C3661900	CLINVAR
NCBI Gene	DIAPH1	CLINVAR
OMIM	124900	CLINVAR
	602121	CLINVAR
	616632	CLINVAR