RGD:156390548 Rat Genome Database

RGD:156390548 Rat Genome Database

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Variant: RGD:156390548 - Homo sapiens

RGD ID:

156390548

ClinVar ID:

CV1998774

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	10	71,332,609
GRCh38	10	69,572,853

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000010.11:g.69572853C>G NC_000010.10:g.71332609C>G NP_066279.2:p.Arg64Pro NM_020999.4:c.191G>C NG_021321.1:g.5602G>C More...	05/28/2022	missense variant	uncertain significance	none provided

Gene Symbol:	NEUROG3
Accession:	XM_017016280
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	64

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPQPSGAPTVQVTRETERSFPRASEDEVTCPTSAPPSPTRTRGNCAEAEEGGCRGAPRKLRAPRGGRSRPKSELALSKQ RRSRRKKANDRERNRMHNLNSALDALRGVLPTFPDDAKLTKIETLRFAHNYIWALTQTLRIADHSLYALEPPAPHCGELG SPGGSPGDWGSLYSPVSQAGSLSPAASLEERPGLLGATFSACLSPGSLAFSDFL*

Gene Symbol:	NEUROG3
Accession:	NM_020999
Location:	EXON
Amino Acid Prediction:	R to P (nonsynonymous)
Amino Acid Position:	64

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPQPSGAPTVQVTRETERSFPRASEDEVTCPTSAPPSPTRTRGNCAEAEEGGCRGAPRKLRAPRGGRSRPKSELALSKQ RRSRRKKANDRERNRMHNLNSALDALRGVLPTFPDDAKLTKIETLRFAHNYIWALTQTLRIADHSLYALEPPAPHCGELG SPGGSPGDWGSLYSPVSQAGSLSPAASLEERPGLLGATFSACLSPGSLAFSDFL*

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV002680719	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	NEUROG3	CLINVAR
OMIM	604882	CLINVAR