RGD:597722434 Rat Genome Database

RGD:597722434 Rat Genome Database

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Variant: RGD:597722434 - Homo sapiens

RGD ID:

597722434

ClinVar ID:

CV3565773

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	10	71,332,309
GRCh38	10	69,572,553

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_020999.4:c.491G>T NG_021321.1:g.5902G>T NC_000010.11:g.69572553C>A NC_000010.10:g.71332309C>A More...	11/14/2024	missense variant	uncertain significance

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV3565773	Human	genetic disease		IAGP		8554872	ClinVar Annotator: match by term: Inborn genetic diseases	ClinVar

Gene Symbol:	NEUROG3
Accession:	NM_020999
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	164

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPQPSGAPTVQVTRETERSFPRASEDEVTCPTSAPPSPTRTRGNCAEAEEGGCRGAPRKLRARRGGRSRPKSELALSKQ RRSRRKKANDRERNRMHNLNSALDALRGVLPTFPDDAKLTKIETLRFAHNYIWALTQTLRIADHSLYALEPPAPHCGELG SPGVSPGDWGSLYSPVSQAGSLSPAASLEERPGLLGATFSACLSPGSLAFSDFL*

Gene Symbol:	NEUROG3
Accession:	XM_017016280
Location:	EXON
Amino Acid Prediction:	G to V (nonsynonymous)
Amino Acid Position:	164

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPQPSGAPTVQVTRETERSFPRASEDEVTCPTSAPPSPTRTRGNCAEAEEGGCRGAPRKLRARRGGRSRPKSELALSKQ RRSRRKKANDRERNRMHNLNSALDALRGVLPTFPDDAKLTKIETLRFAHNYIWALTQTLRIADHSLYALEPPAPHCGELG SPGVSPGDWGSLYSPVSQAGSLSPAASLEERPGLLGATFSACLSPGSLAFSDFL*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004961664	CLINVAR
MedGen	C0950123	CLINVAR
NCBI Gene	NEUROG3	CLINVAR
OMIM	604882	CLINVAR