RGD:401883111 Rat Genome Database

RGD:401883111 Rat Genome Database

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Variant: RGD:401883111 - Homo sapiens

RGD ID:

401883111

ClinVar ID:

CV2785537

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

NTF3

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	12	5,603,706
GRCh38	12	5,494,540

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_002527.5:c.326G>A NM_001102654.2:c.365G>A NG_050629.1:g.67427G>A NC_000012.12:g.5494540G>A More...	08/14/2023	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	NTF3
Accession:	XM_011520963
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSILFYVIFLAYLRGIQGNNMDQRSLPEDSLNSLIIKLIQADILKNKLSKQMVDVKENYQSTLPKAEAPREPERGGPAKS AFQPVIAMDTELLRQQRRYNSPRVLLSDNTPLEPPPLYLMEDYVGSPVVANRTSRRKRYAEHKSHRGEYSVCDSESLWVT DKSSAIDIRGHQVTVLGEIKTGNSPVKQYFYETRCKEARPVKNGCRGIDDKHWNSQCKTSQTYVRALTSENNKLVGWRWI RIDTSCVCALSRKIGRT*

Gene Symbol:	NTF3
Accession:	XM_047428901
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSILFYVIFLAYLRGIQGNNMDQRSLPEDSLNSLIIKLIQADILKNKLSKQMVDVKENYQSTLPKAEAPREPERGGPAKS AFQPVIAMDTELLRQQRRYNSPRVLLSDNTPLEPPPLYLMEDYVGSPVVANRTSRRKRYAEHKSHRGEYSVCDSESLWVT DKSSAIDIRGHQVTVLGEIKTGNSPVKQYFYETRCKEARPVKNGCRGIDDKHWNSQCKTSQTYVRALTSENNKLVGWRWI RIDTSCVCALSRKIGRT*

Gene Symbol:	NTF3
Accession:	NM_002527
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	109

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSILFYVIFLAYLRGIQGNNMDQRSLPEDSLNSLIIKLIQADILKNKLSKQMVDVKENYQSTLPKAEAPREPERGGPAKS AFQPVIAMDTELLRQQRRYNSPRVLLSDNTPLEPPPLYLMEDYVGSPVVANRTSRRKRYAEHKSHRGEYSVCDSESLWVT DKSSAIDIRGHQVTVLGEIKTGNSPVKQYFYETRCKEARPVKNGCRGIDDKHWNSQCKTSQTYVRALTSENNKLVGWRWI RIDTSCVCALSRKIGRT*

Gene Symbol:	NTF3
Accession:	NM_001102654
Location:	EXON
Amino Acid Prediction:	S to N (nonsynonymous)
Amino Acid Position:	122

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVTFATILQVNKVMSILFYVIFLAYLRGIQGNNMDQRSLPEDSLNSLIIKLIQADILKNKLSKQMVDVKENYQSTLPKAE APREPERGGPAKSAFQPVIAMDTELLRQQRRYNSPRVLLSDNTPLEPPPLYLMEDYVGSPVVANRTSRRKRYAEHKSHRG EYSVCDSESLWVTDKSSAIDIRGHQVTVLGEIKTGNSPVKQYFYETRCKEARPVKNGCRGIDDKHWNSQCKTSQTYVRAL TSENNKLVGWRWIRIDTSCVCALSRKIGRT*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004363059	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	NTF3	CLINVAR
OMIM	162660	CLINVAR