rs765088400 Rat Genome Database

rs765088400 Rat Genome Database

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Variant: rs765088400 - Homo sapiens

RGD ID:

14705048

RS ID:

rs765088400

ClinVar ID:

CV646582

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	17	6,590,915
GRCh38	17	6,687,596

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_808218.1:p.Met503Thr NM_177550.5:c.1508T>C NM_001284509.2:c.1457T>C LRG_1020t1:c.1508T>C More...	02/24/2022	intron variant	uncertain significance	DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 25, WITH AMELOGENESIS IMPERFECTA; Epileptic encephalopathy, early infantile, 25; EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 25, WITH AMELOGENESIS IMPERFECTA

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV646582	Human	developmental and epileptic encephalopathy 25		IAGP		8554872	ClinVar Annotator: match by term: Epileptic encephalopathy more ...	ClinVar	PMID:28492532

Gene Symbol:	SLC13A5
Accession:	XM_011523795
Location:	3UTRS;EXON

Gene Symbol:	SLC13A5
Accession:	NM_177550
Location:	EXON
Amino Acid Prediction:	M to T (nonsynonymous)
Amino Acid Position:	503

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASALSYVSKFKSFVILFVTPLLLLPLVILMPAKFVRCAYVIILMAIYWCTEVIPLAVTSLMPVLLFPLFQILDSRQVCV QYMKDTNMLFLGGLIVAVAVERWNLHKRIALRTLLWVGAKPARLMLGFMGVTALLSMWISNTATTAMMVPIVEAILQQME ATSAATEAGLELVDKGKAKELPGSQVIFEGPTLGQQEDQERKRLCKAMTLCICYAASIGGTATLTGTGPNVVLLGQMNEL FPDSKDLVNFASWFAFAFPNMLVMLLFAWLWLQFVYMRFNFKKSWGCGLESKKNEKAALKVLQEEYRKLGPLSFAEINVL ICFFLLVILWFSRDPGFMPGWLTVAWVEGETKYVSDATVAIFVATLLFIVPSQKPKFNFRSQTEEERKTPFYPPPLLDWK VTQEKVPWGIVLLLGGGFALAKGSEASGLSVWMGKQMEPLHAVPPAAITLILSLLVAVFTECTSNVATTTLFLPIFASMS RSIGLNPLYIMLPCTLSASFAFTLPVATPPNAIVFTYGHLKVADMVKTGVIMNIIGVFCVFLAVNTWGRAIFDLDHFPDW ANVTHIET*

Gene Symbol:	SLC13A5
Accession:	NM_001284510
Location:	EXON
Amino Acid Prediction:	M to T (nonsynonymous)
Amino Acid Position:	460

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASALSYVSKFKSFVILFVTPLLLLPLVILMPAKVCVQYMKDTNMLFLGGLIVAVAVERWNLHKRIALRTLLWVGAKPAR LMLGFMGVTALLSMWISNTATTAMMVPIVEAILQQMEATSAATEAGLELVDKGKAKELPGSQVIFEGPTLGQQEDQERKR LCKAMTLCICYAASIGGTATLTGTGPNVVLLGQMNELFPDSKDLVNFASWFAFAFPNMLVMLLFAWLWLQFVYMRFNFKK SWGCGLESKKNEKAALKVLQEEYRKLGPLSFAEINVLICFFLLVILWFSRDPGFMPGWLTVAWVEGETKYVSDATVAIFV ATLLFIVPSQKPKFNFRSQTEEERKTPFYPPPLLDWKVTQEKVPWGIVLLLGGGFALAKGSEASGLSVWMGKQMEPLHAV PPAAITLILSLLVAVFTECTSNVATTTLFLPIFASMSRSIGLNPLYIMLPCTLSASFAFTLPVATPPNAIVFTYGHLKVA DMVKTGVIMNIIGVFCVFLAVNTWGRAIFDLDHFPDWANVTHIET*

Gene Symbol:	SLC13A5
Accession:	NM_001284509
Location:	EXON
Amino Acid Prediction:	M to T (nonsynonymous)
Amino Acid Position:	486

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASALSYVSKFKSFVILFVTPLLLLPLVILMPAKFVRCAYVIILMAIYWCTEVIPLAVTSLMPVLLFPLFQILDSRQVCV QYMKDTNMLFLGGLIVAVAVERWNLHKRIALRTLLWVGAKPARNTATTAMMVPIVEAILQQMEATSAATEAGLELVDKGK AKELPGSQVIFEGPTLGQQEDQERKRLCKAMTLCICYAASIGGTATLTGTGPNVVLLGQMNELFPDSKDLVNFASWFAFA FPNMLVMLLFAWLWLQFVYMRFNFKKSWGCGLESKKNEKAALKVLQEEYRKLGPLSFAEINVLICFFLLVILWFSRDPGF MPGWLTVAWVEGETKYVSDATVAIFVATLLFIVPSQKPKFNFRSQTEEERKTPFYPPPLLDWKVTQEKVPWGIVLLLGGG FALAKGSEASGLSVWMGKQMEPLHAVPPAAITLILSLLVAVFTECTSNVATTTLFLPIFASMSRSIGLNPLYIMLPCTLS ASFAFTLPVATPPNAIVFTYGHLKVADMVKTGVIMNIIGVFCVFLAVNTWGRAIFDLDHFPDWANVTHIET*

Gene Symbol:	SLC13A5
Accession:	NM_001143838
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000791557	CLINVAR
dbSNP (RS)	rs765088400	CLINVAR
MedGen	C4014621	CLINVAR
NCBI Gene	SLC13A5	CLINVAR
OMIM	608305	CLINVAR
	615905	CLINVAR