RGD:407522129 Rat Genome Database

RGD:407522129 Rat Genome Database

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Variant: RGD:407522129 - Homo sapiens

RGD ID:

407522129

ClinVar ID:

CV3437286

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	8	133,083,696
GRCh38	8	132,071,449

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001145095.3:c.1360C>T NC_000008.11:g.132071449G>A NC_000008.10:g.133083696G>A NM_001145095.1:c.1360C>T NP_001138567.1:p.Pro454Ser More...	05/13/2024	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	HHLA1
Accession:	NM_001145095
Location:	EXON
Amino Acid Prediction:	P to S (nonsynonymous)
Amino Acid Position:	454

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

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004630594	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	HHLA1	CLINVAR
OMIM	604109	CLINVAR