RGD:401728852 Rat Genome Database

RGD:401728852 Rat Genome Database

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Variant: RGD:401728852 - Homo sapiens

RGD ID:

401728852

ClinVar ID:

CV2693870

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	10	25,279,466
GRCh38	10	24,990,537

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_001257312.1:p.Arg112Gly NM_001270383.2:c.334C>G NM_145010.4:c.520C>G NP_659447.1:p.Arg174Gly More...	04/12/2023	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	THNSL1
Accession:	XM_017016665
Location:	5UTRS;INTRON

Gene Symbol:	THNSL1
Accession:	XM_047425764
Location:	5UTRS;INTRON

Gene Symbol:	ENKUR
Accession:	NM_145010
Location:	EXON
Amino Acid Prediction:	R to R (synonymous)
Amino Acid Position:	174

Amino Acid Sequence (Calculated using NCBI transcript definition)
MDPTCSSECIYNLIPSDLKEPPQPPRYISIFKATVKDDMQKAKTAMKTMGPAKVEVPSPKDFLKKHSKEKTLPPKKNFDR NVPKKPAVPLKTDHPVMGIQSGKNFINTNAADIIMGVAKKPKPIYVDKRTGDKHDLEPSGLVPKYINKKDYGVTPEYICK RNEEIKKAQEDYDRYIQENLKKAAMKRLSDEEREAVLQGLKKNWEEVHKEFQSLSVFIDSIPKKIRKQRLEEEMKQLEHD IGIIEKHKIIYIANNA*

Gene Symbol:	ENKUR
Accession:	NM_001270383
Location:	EXON
Amino Acid Prediction:	R to R (synonymous)
Amino Acid Position:	112

Amino Acid Sequence (Calculated using NCBI transcript definition)
MKTERVTGGGSPEKNFDRNVPKKPAVPLKTDHPVMGIQSGKNFINTNAADIIMGVAKKPKPIYVDKRTGDKHDLEPSGLV PKYINKKDYGVTPEYICKRNEEIKKAQEDYDRYIQENLKKAAMKRLSDEEREAVLQGLKKNWEEVHKEFQSLSVFIDSIP KKIRKQRLEEEMKQLEHDIGIIEKHKIIYIANNA*

Gene Symbol:	ENKUR
Accession:	NR_072993
Location:	EXON;NON-CODING

Gene Symbol:	ENKUR
Accession:	NR_072992
Location:	EXON;NON-CODING

Gene Symbol:	THNSL1
Accession:	NM_024838
Location:	INTRON

Gene Symbol:	THNSL1
Accession:	XM_005252597
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004300173	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	ENKUR	CLINVAR
	THNSL1	CLINVAR
OMIM	611025	CLINVAR
	611260	CLINVAR