RGD:405777781 Rat Genome Database

RGD:405777781 Rat Genome Database

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Variant: RGD:405777781 - Homo sapiens

RGD ID:

405777781

ClinVar ID:

CV3270156

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	8	133,099,959
GRCh38	8	132,087,712

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001145095.3:c.617T>C NC_000008.11:g.132087712A>G NC_000008.10:g.133099959A>G NM_001145095.1:c.617T>C NP_001138567.1:p.Ile206Thr More...	02/06/2024	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	HHLA1
Accession:	NM_001145095
Location:	EXON
Amino Acid Prediction:	I to T (nonsynonymous)
Amino Acid Position:	206

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLGFLSRGPSMKLCMGLACVLSLWNTVSGIKGEAKKEKGMTFLPTTVSGLREEERKEKGVAFLATTELPARSIDLSALNL TELVNGMLSRALKDSKKFFSLLSVTSYSSFAFHKFSVAVYNISNLKTVDPAKFPTRYCYCLNNRTNDLSDFTALLVDIIG NSTSYLTEIFKSTSILSVNQSNESDCIFICVMTGKSGRNLSDFWETEEKYPIINYTFTSGLSGVLGAATRGTARTSKPTT KSQKTLPSTSPGHWTQSTPWASALRSSPWTETAAPSETEETLNTGRPPELPARATATWFSASHTLPALATRRVARTQWLT ADRQTWASISSVPWAQTISEKKPGGSLWETRSSPPTTAGTEEAMNTTSLLAPAAEIMATPGSPSQASPTLGAFTHGTQTP SPTKATAPRYPQTGDLSAEWPFTAGEEPVLVPRPHQVSRCPQPLFKVGAMAAAPLTLAIQRLNPCLMELCQFFQQCLCMS QRSPRTEDMRYCLEYYSWFLKNATYICQRVKRVSHSHTLKQKCLENICKSV*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004397073	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	HHLA1	CLINVAR
OMIM	604109	CLINVAR