RGD:405796262 Rat Genome Database

RGD:405796262 Rat Genome Database

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Variant: RGD:405796262 - Homo sapiens

RGD ID:

405796262

ClinVar ID:

CV3379707

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	22	32,112,623
GRCh38	22	31,716,637

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_173566.3:c.1202G>A NC_000022.11:g.31716637C>T NC_000022.10:g.32112623C>T NM_173566.2:c.1202G>A NP_775837.2:p.Arg401Gln More...	01/16/2024	missense variant	likely benign	AllHighlyPenetrant

Gene Symbol:	PRR14L
Accession:	NM_173566
Location:	EXON
Amino Acid Prediction:	R to Q (nonsynonymous)
Amino Acid Position:	401

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLSSGVETQPVPLDSSMSAVVQELYSELPVSVSRELHADPEPSVIPDVKPGASSSLLSQNRALPLELQRTHVESCCEETY ETLDHGSEPGRCGLVDSTAGGSVASGILDRAKRSESMEPKVFRDPGGQAGIIREPSEGAKEDPHQHSTAAEEKTSPSQED LLMQSSKELSHVDLPEDFLRSKEGNVQITAETLLKSAEVQGMKVNGTKTDNNEGHKNGNVSKDLSAGCGEFQEVDKIMTS DEVSETSTLVTPEPLTFVDPVLTEATPKEKECEELKSCPWLSLPGNSAISNVDNGKEELCKPNLVCEADDNHQQLHGHHN EQPSSTHDSPTATSPLKENSEVSCFTSDLSGPESRTISLENCGFEGGGLLKRSAEKTDSSYFYRGDDQGKNLASREENEE QLLIPRSERGGPFLFNAREPEKEISGRCSGEKEPVVSPKENIHNNCIQDSLHTGNSSSLMPNSFTEATEVMLNKNDLKIT VHVQGNLTNPEDHKETFTNMSHPGGHSEESSFSSLMQIEEAGQTTPVEPNILSKSFYTKDCNSLVSIQRNLEGNTQLNEA SCNDFLFERKSIVSLMPEDQISPVSEVLKPKQGTALLLPSPEFDYRPESEKVIQTSHDDIPLLDEQSIACEMNELSCTNE LVVNKVESECVLNQQVSLNSQEHANLPTDSLLHLNKEMPLATGRDAHQSHHPPLEGRADVIADIQTIPIQTKIKDISPPG NQTCGASSNCPTLNIKPVSLERKKEMADSGTKALHSRLRSNKREAAGFPQVVSVIECHSVQSQDISSCHRVRKNVSQENM CSASAAFKSSKISLQVDNSLITKYENAFQHRDHCCQGTGHSVEKSSCKVSYTSQERELDGKETNGSLPGDKIRNKMVAGL LNSGISNKTIHTSSSIKLSEEGLEGKEQDVSKETVFCKYNISDHAIQELNQTVNIPGPEKVLDQSPTVMFSSFKNVKSVE TLDQKADEVLDCQSNQNRPDECKSEGQSAKEMLSSDQRETVTEPHGEVNHNQKDLLVSSGSNNSLPCGSPKKCNLKGAFV KMSGCDESTEGMVDIVYTDCSNKLAEGVLDVKASNLLDCGARQEKLAFQEDSRSTLSRRELDAAHTGTTGQDSDFPVTAA STVDFLKIKKSCEENVCRSLKDCEMEKCPDSCAHEMESVADHEPNKRILGRVNLSLNDSHYGQQDKGTSLRETQEMTEGS RLEPNSEFGKESTFGISSKESMSCHDESSVSLRSLKSIEIMPSQENSETNVNSEETDLKNLCKPKDGEMLCENVKDCTVL PEMKEIVSRDWSNSSDRDSVCTCVEKNACKACHPHENSSDRHLPLTVKTDIKVKGEETEEHQRGRLGYLTVGEQSEELVT RETGDGDPVSNISQTHFKCRGILNHAEKQQSPEVLDYMLQKEEKYIRQQKAHTISQQCISSSLLLDDAQNQNQPKADKDE STMINEITLAKLAKDSIVAQTQKLEDQKEERLHHPLRKDTESCTSPCLLGAPRKAQDPSSAGCDQIHGAFAKKGVLPLKK QPHRTCKKVSYQEQIIVGRKIGKIRSSAFLKSSSNPIPTKAHRLLSLCTLSAPTRLEPETAPTKSLVSHIPKQMSTPCHP LRSLNFRKTTKESALLNKLSILASKLAPAMKTQKLRYRRCSSELLPMAKSYKRLRYKRLLDGFSSSTEQLNPYLAASGWD KRPNSKPMALYSLESIKMTFIDLSNKMPSLLFGSEIFPVSFHVKSSSSDCTTESSRTFPEHCAPARLALGEALQCPSQPP KWTFSFFLSHGCPGMATFREDTGVHSQTHTQAPPQPPAPLQDYGGTAIVQTRADCSVLGLHTLLALCSPGCYRIWTKKRS FSSHMPTMQRLFMTQFTQGLKGLRSPASIADKVFCSLPYSVGRVLSIWSQHGPSVCSFEISSLHSPHCKRQPSLGTTSSH TMLPYVPLPGMEATYNTSGSQTRLEPPFPALVPKSCLVAESAVSKLLLSASEFQVRGLDELDGVKAACPCPQSSPPEQKE AEPEKRPKKVSQIRIRKTIPRPDPNLTPMGLPRPKRLKKKEFSLEEIYTNKNYKSPPANRCLETIFEEPKERNGTLISIS QQKRKRVLEFQDFTVPRKRRARGKVKVAGSFTRAQKAAVQSRELDALLIQKLMELETFFAKEEEQEQSSGC*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004507680	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	PRR14L	CLINVAR