RGD:40813875 Rat Genome Database

RGD:40813875 Rat Genome Database

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

Advanced Search (OLGA)

Variant: RGD:40813875 - Homo sapiens

RGD ID:

40813875

ClinVar ID:

CV969621

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

NRAS

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	1	115,252,197
GRCh38	1	114,709,576

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NG_007572.1:g.12319C>T NC_000001.11:g.114709576G>A NC_000001.10:g.115252197G>A LRG_92t1:c.443C>T More...		missense variant	likely benign	Noonan's syndrome; Pseudo-Turner syndrome

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV969621	Human	Noonan syndrome		IAGP		8554872	ClinVar Annotator: match by term: Noonan syndrome	ClinVar

Gene Symbol:	NRAS
Accession:	NM_002524
Location:	EXON
Amino Acid Prediction:	T to I (nonsynonymous)
Amino Acid Position:	148

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTEYKLVVVGAGGVGKSALTIQLIQNHFVDEYDPTIEDSYRKQVVIDGETCLLDILDTAGQEEYSAMRDQYMRTGEGFLC VFAINNSKSFADINLYREQIKRVKDSDDVPMVLVGNKCDLPTRTVDTKQAHELAKSYGIPFIETSAKIRQGVEDAFYTLV REIRQYRMKKLNSSDDGTQGCMGLPCVVM*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV001261091	CLINVAR
MedGen	C0028326	CLINVAR
NCBI Gene	NRAS	CLINVAR
OMIM	164790	CLINVAR
SNOMED CT	205824006	CLINVAR