rs969278453 Rat Genome Database

rs969278453 Rat Genome Database

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Variant: rs969278453 - Homo sapiens

RGD ID:

151869277

RS ID:

rs969278453

ClinVar ID:

CV1415860

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	10	71,332,441
GRCh38	10	69,572,685

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_020999.4:c.359C>G NC_000010.11:g.69572685G>C NC_000010.10:g.71332441G>C NP_066279.2:p.Thr120Ser NG_021321.1:g.5770C>G More...	08/19/2022	missense variant	uncertain significance	none provided; RECLASSIFIED - ADRA2C POLYMORPHISM; RECLASSIFIED - ADRB1 POLYMORPHISM

Gene Symbol:	NEUROG3
Accession:	NM_020999
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	120

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPQPSGAPTVQVTRETERSFPRASEDEVTCPTSAPPSPTRTRGNCAEAEEGGCRGAPRKLRARRGGRSRPKSELALSKQ RRSRRKKANDRERNRMHNLNSALDALRGVLPTFPDDAKLSKIETLRFAHNYIWALTQTLRIADHSLYALEPPAPHCGELG SPGGSPGDWGSLYSPVSQAGSLSPAASLEERPGLLGATFSACLSPGSLAFSDFL*

Gene Symbol:	NEUROG3
Accession:	XM_017016280
Location:	EXON
Amino Acid Prediction:	T to S (nonsynonymous)
Amino Acid Position:	120

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTPQPSGAPTVQVTRETERSFPRASEDEVTCPTSAPPSPTRTRGNCAEAEEGGCRGAPRKLRARRGGRSRPKSELALSKQ RRSRRKKANDRERNRMHNLNSALDALRGVLPTFPDDAKLSKIETLRFAHNYIWALTQTLRIADHSLYALEPPAPHCGELG SPGGSPGDWGSLYSPVSQAGSLSPAASLEERPGLLGATFSACLSPGSLAFSDFL*

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV001884930	CLINVAR
dbSNP (RS)	rs969278453	CLINVAR
MedGen	C3661900	CLINVAR
NCBI Gene	NEUROG3	CLINVAR
OMIM	604882	CLINVAR