RGD:405815662 Rat Genome Database

RGD:405815662 Rat Genome Database

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

Advanced Search (OLGA)

Variant: RGD:405815662 - Homo sapiens

RGD ID:

405815662

ClinVar ID:

CV3284250

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	2	14,774,223
GRCh38	2	14,634,099

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001369364.1:c.120T>G NM_145175.4:c.120T>G NC_000002.12:g.14634099T>G NC_000002.11:g.14774223T>G More...	02/06/2024	missense variant	likely benign	AllHighlyPenetrant

Gene Symbol:	LRATD1
Accession:	NM_145175
Location:	EXON
Amino Acid Prediction:	D to E (nonsynonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGNQLDRITHLNYSELPTGDPSGIEKDELRVGVAYFFSDEEEDLDERGQPDKFGVKAPPGCTPCPESPSRHHHHLLHQLV LNETQFSAFRGQECIFSKVSGGPQGADLSVYAVTALPALCEPGDLLELLWLQPAPEPPAPAPHWAVYVGGGQIIHLHQGE IRQDSLYEAGAANVGRVVNSWYRYRPLVAELVVQNACGHLGLKSEEICWTNSESFAAWCRFGKREFKAGGEVPAGTQPPQ QQYYLKVHLGENKVHTARFHSLEDLIREKRRIDASGRLRVLQELADLVDDKE*

Gene Symbol:	LRATD1
Accession:	NM_001369364
Location:	EXON
Amino Acid Prediction:	D to E (nonsynonymous)
Amino Acid Position:	40

Amino Acid Sequence (Calculated using NCBI transcript definition)
MGNQLDRITHLNYSELPTGDPSGIEKDELRVGVAYFFSDEEEDLDERGQPDKFGVKAPPGCTPCPESPSRHHHHLLHQLV LNETQFSAFRGQECIFSKVSGGPQGADLSVYAVTALPALCEPGDLLELLWLQPAPEPPAPAPHWAVYVGGGQIIHLHQGE IRQDSLYEAGAANVGRVVNSWYRYRPLVAELVVQNACGHLGLKSEEICWTNSESFAAWCRFGKREFKAGGEVPAGTQPPQ QQYYLKVHLGENKVHTARFHSLEDLIREKRRIDASGRLRVLQELADLVDDKE*

Gene Symbol:	LRATD1
Accession:	NR_144632
Location:	EXON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004410647	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	LRATD1	CLINVAR
OMIM	611234	CLINVAR