RGD:401769948 Rat Genome Database

RGD:401769948 Rat Genome Database

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Variant: RGD:401769948 - Homo sapiens

RGD ID:

401769948

ClinVar ID:

CV2710757

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC127814297 RBM27

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	5	145,631,315
GRCh38	5	146,251,752

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001414499.1:c.1280-3191G>C NM_018989.2:c.1321G>C NC_000005.10:g.146251752G>C NC_000005.9:g.145631315G>C More...	04/07/2023	intron variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	RBM27
Accession:	NM_018989
Location:	EXON
Amino Acid Prediction:	E to Q (nonsynonymous)
Amino Acid Position:	441

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLIEDVDALKSWLAKLLEPICDADPSALANYVVALVKKDKPEKELKAFCADQLDVFLQKETSGFVDKLFESLYTKNYLPL LEPVKPEPKPLVQEKEEIKEEVFQEPAEEERDGRKKKYPSPQKTRSESSERRTREKKREDGKWRDYDRYYERNELYREKY DWRRGRSKSRSKSRGLSRSRSRSRGRSKDRDPNRNVEHRERSKFKSERNDLESSYVPVSAPPPNSSEQYSSGAQSIPSTV TVIAPAHHSENTTESWSNYYNNHSSSNSFGRNLPPKRRCRDYDERGFCVLGDLCQFDHGNDPLVVDEVALPSMIPFPPPP PGLPPPPPPGMLMPPMPGPGPGPGPGPGPGPGPGPGPGHSMRLPVPQGHGQPPPSVVLPIPRPPITQSSLINSRDQPGTS AVPNLASVGTRLPPPLPQNLLYTVSERQPMYSREHGAAASQRLQLGTPPPLLAARLVPPRNLMGSSIGYHTSVSSPTPLV PDTYEPDGYNPEAPSITSSGRSQYRQFFSRTQTQRPNLIGLTSGDMDVNPRAANIVIQTEPPVPVSINSNITRVVLEPDS RKRAMSGLEGPLTKKPWLGKQGNNNQNKPGFLRKNQYTNTKLEVKKIPQELNNITKLNEHFSKFGTIVNIQVAFKGDPEA ALIQYLTNEEARKAISSTEAVLNNRFIRVLWHRENNEQPTLQSSAQLLLQQQQTLSHLSQQHHHLPQHLHQQQVLVAQSA PSTVHGGIQKMMSKPQTSGAYVLNKVPVKHRLGHAGGNQSDASHLLNQSGGAGEDCQIFSTPGHPKMIYSSSNLKTPSKL CSGSKSHDVQEVLKKKQEAMKLQQDMRKKRQEVLEKQIECQKMLISKLEKNKNMKPEERANIMKTLKELGEKISQLKDEL KTSSAVSTPSKVKTKTEAQKELLDTELDLHKRLSSGEDTTELRKKLSQLQVEAARLGILPVGRGKTMSSQGRGRGRGRGG RGRGSLNHMVVDHRPKALTVGGFIEEEKEDLLQHFSTANQGPKFKDRRLQISWHKPKVPSISTETEEEEVKEEETETSDL FLPDDDDEDEDEYESRSWRR*

Gene Symbol:	LOC127814297
Accession:	NM_001414499
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004308693	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	LOC127814297	CLINVAR
	RBM27	CLINVAR
OMIM	620082	CLINVAR