rs1431116673 Rat Genome Database

rs1431116673 Rat Genome Database

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Variant: rs1431116673 - Homo sapiens

RGD ID:

15181619

RS ID:

rs1431116673

ClinVar ID:

CV775042

Genic Status:

GENIC

Type:

deletion (SO:0000159)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

-

Position

Assembly	Chr	Position
GRCh37	5	140,908,515
GRCh38	5	141,528,948

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000005.9:g.140908514delA NM_001079812.3:c.2752-6del NM_001314007.2:c.2779-6del NM_005219.5:c.2779-6del More...	12/30/2023	intron variant	likely benign	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)
CV775042	Human	autosomal dominant nonsyndromic deafness 1		IAGP		8554872	ClinVar Annotator: match by term: Deafness, autosomal dominant 1	ClinVar	PMID:28492532
CV775042	Human	Seizures, Cortical Blindness, and Microcephaly Syndrome		IAGP		8554872	ClinVar Annotator: match by term: Seizures, cortical blindness, and microcephaly syndrome	ClinVar	PMID:28492532

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001393646	CLINVAR
dbSNP (RS)	rs1431116673	CLINVAR
MedGen	C1852282	CLINVAR
NCBI Gene	DIAPH1	CLINVAR
OMIM	124900	CLINVAR
	602121	CLINVAR
	616632	CLINVAR