RGD:156304165 Rat Genome Database

RGD:156304165 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: RGD:156304165 - Homo sapiens

RGD ID:

156304165

ClinVar ID:

CV2341425

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

NTF3

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	12	5,603,589
GRCh38	12	5,494,423

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_002527.5:c.209G>A NM_001102654.2:c.248G>A NG_050629.1:g.67310G>A NC_000012.12:g.5494423G>A More...	05/31/2022	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	NTF3
Accession:	NM_001102654
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	83

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

Gene Symbol:	NTF3
Accession:	NM_002527
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	70

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSILFYVIFLAYLRGIQGNNMDQRSLPEDSLNSLIIKLIQADILKNKLSKQMVDVKENYQSTLPKAEAPQEPERGGPAKS AFQPVIAMDTELLRQQRRYNSPRVLLSDSTPLEPPPLYLMEDYVGSPVVANRTSRRKRYAEHKSHRGEYSVCDSESLWVT DKSSAIDIRGHQVTVLGEIKTGNSPVKQYFYETRCKEARPVKNGCRGIDDKHWNSQCKTSQTYVRALTSENNKLVGWRWI RIDTSCVCALSRKIGRT*

Gene Symbol:	NTF3
Accession:	XM_011520963
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	70

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSILFYVIFLAYLRGIQGNNMDQRSLPEDSLNSLIIKLIQADILKNKLSKQMVDVKENYQSTLPKAEAPQEPERGGPAKS AFQPVIAMDTELLRQQRRYNSPRVLLSDSTPLEPPPLYLMEDYVGSPVVANRTSRRKRYAEHKSHRGEYSVCDSESLWVT DKSSAIDIRGHQVTVLGEIKTGNSPVKQYFYETRCKEARPVKNGCRGIDDKHWNSQCKTSQTYVRALTSENNKLVGWRWI RIDTSCVCALSRKIGRT*

Gene Symbol:	NTF3
Accession:	XM_047428901
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	70

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSILFYVIFLAYLRGIQGNNMDQRSLPEDSLNSLIIKLIQADILKNKLSKQMVDVKENYQSTLPKAEAPQEPERGGPAKS AFQPVIAMDTELLRQQRRYNSPRVLLSDSTPLEPPPLYLMEDYVGSPVVANRTSRRKRYAEHKSHRGEYSVCDSESLWVT DKSSAIDIRGHQVTVLGEIKTGNSPVKQYFYETRCKEARPVKNGCRGIDDKHWNSQCKTSQTYVRALTSENNKLVGWRWI RIDTSCVCALSRKIGRT*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004188822	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	NTF3	CLINVAR
OMIM	162660	CLINVAR