RGD:156345517 Rat Genome Database

RGD:156345517 Rat Genome Database

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Variant: RGD:156345517 - Homo sapiens

RGD ID:

156345517

ClinVar ID:

CV2372934

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

IRX1 LOC127402381

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	5	3,599,826
GRCh38	5	3,599,712

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_024337.4:c.764C>T NG_104340.1:g.455C>T NC_000005.10:g.3599712C>T NC_000005.9:g.3599826C>T More...	08/17/2022	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	IRX1
Accession:	NM_024337
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	255

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSFPQLGYPQYLSAAGPGAYGGERPGVLAAAAAAAAAASSGRPGAAELGGGAGAAAVTSVLGMYAAAGPYAGAPNYSAFL PYAADLSLFSQMGSQYELKDNPGVHPATFAAHTAPAYYPYGQFQYGDPGRPKNATRESTSTLKAWLNEHRKNPYPTKGEK IMLAIITKMTLTQVSTWFANARRRLKKENKVTWGARSKDQEDGALFGSDTEGDPEKAEDDEEIDLESIDIDKIDEHDGDQ SNEDDEDKAEAPHALAAPSALARDQGSPLAAADVLKPQDSPLGLAKEAPEPGSTRLLSPGAAAGGLQGAPHGKPKIWSLA ETATSPDGAPKASPPPPAGHPGAHGPSAGAPLQHPAFLPSHGLYTCHIGKFSNWTNSAFLAQGSLLNMRSFLGVGAPHAA PHGPHLPAPPPPQPPVAIAPGALNGDKASVRSSPTLPERDLVPRPDSPAQQLKSPFQPVRDNSLAPQEGTPRILAALPSA *

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004223978	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	IRX1	CLINVAR
OMIM	606197	CLINVAR