RGD:407458266 Rat Genome Database

RGD:407458266 Rat Genome Database

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Variant: RGD:407458266 - Homo sapiens

RGD ID:

407458266

ClinVar ID:

CV3455402

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

IRX1

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	5	3,596,263
GRCh38	5	3,596,149

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_024337.4:c.44C>T NC_000005.10:g.3596149C>T NC_000005.9:g.3596263C>T NM_024337.3:c.44C>T NP_077313.3:p.Ala15Val More...	06/19/2024	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	IRX1
Accession:	NM_024337
Location:	EXON
Amino Acid Prediction:	A to V (nonsynonymous)
Amino Acid Position:	15

Amino Acid Sequence (Calculated using NCBI transcript definition)
MSFPQLGYPQYLSAVGPGAYGGERPGVLAAAAAAAAAASSGRPGAAELGGGAGAAAVTSVLGMYAAAGPYAGAPNYSAFL PYAADLSLFSQMGSQYELKDNPGVHPATFAAHTAPAYYPYGQFQYGDPGRPKNATRESTSTLKAWLNEHRKNPYPTKGEK IMLAIITKMTLTQVSTWFANARRRLKKENKVTWGARSKDQEDGALFGSDTEGDPEKAEDDEEIDLESIDIDKIDEHDGDQ SNEDDEDKAEAPHAPAAPSALARDQGSPLAAADVLKPQDSPLGLAKEAPEPGSTRLLSPGAAAGGLQGAPHGKPKIWSLA ETATSPDGAPKASPPPPAGHPGAHGPSAGAPLQHPAFLPSHGLYTCHIGKFSNWTNSAFLAQGSLLNMRSFLGVGAPHAA PHGPHLPAPPPPQPPVAIAPGALNGDKASVRSSPTLPERDLVPRPDSPAQQLKSPFQPVRDNSLAPQEGTPRILAALPSA *

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004633235	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	IRX1	CLINVAR
OMIM	606197	CLINVAR