RGD:405778329 Rat Genome Database

RGD:405778329 Rat Genome Database

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Variant: RGD:405778329 - Homo sapiens

RGD ID:

405778329

ClinVar ID:

CV3270149

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	8	133,088,347
GRCh38	8	132,076,100

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001145095.3:c.1270G>T NC_000008.11:g.132076100C>A NC_000008.10:g.133088347C>A NM_001145095.1:c.1270G>T NP_001138567.1:p.Ala424Ser More...	03/05/2024	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	HHLA1
Accession:	NM_001145095
Location:	EXON
Amino Acid Prediction:	A to S (nonsynonymous)
Amino Acid Position:	424

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004397066	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	HHLA1	CLINVAR
OMIM	604109	CLINVAR