rs760650951 Rat Genome Database

rs760650951 Rat Genome Database

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Variant: rs760650951 - Homo sapiens

RGD ID:

13624480

RS ID:

rs760650951

ClinVar ID:

CV532075

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

T

Variant Nucleotide:

C

Position

Assembly	Chr	Position
GRCh37	17	6,606,316
GRCh38	17	6,702,997

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NP_001271438.1:p.Asn213Ser NG_034220.1:g.15425A>G NC_000017.11:g.6702997T>C NC_000017.10:g.6606316T>C More...	07/15/2022	missense 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)
CV532075	Human	developmental and epileptic encephalopathy 25		IAGP		8554872	ClinVar Annotator: match by term: Epileptic encephalopathy more ...	ClinVar	PMID:28492532

Gene Symbol:	SLC13A5
Accession:	NM_177550
Location:	EXON
Amino Acid Prediction:	N to S (nonsynonymous)
Amino Acid Position:	230

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

Gene Symbol:	SLC13A5
Accession:	XM_011523795
Location:	EXON
Amino Acid Prediction:	N to S (nonsynonymous)
Amino Acid Position:	230

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASALSYVSKFKSFVILFVTPLLLLPLVILMPAKFVRCAYVIILMAIYWCTEVIPLAVTSLMPVLLFPLFQILDSRQVCV QYMKDTNMLFLGGLIVAVAVERWNLHKRIALRTLLWVGAKPARLMLGFMGVTALLSMWISNTATTAMMVPIVEAILQQME ATSAATEAGLELVDKGKAKELPGSQVIFEGPTLGQQEDQERKRLCKAMTLCICYAASIGGTATLTGTGPSVVLLGQMNEL FPDSKDLVNFASWFAFAFPNMLVMLLFAWLWLQFVYMRFNFKKSWGCGLESKKNEKAALKVLQEEYRKLGPLSFAEINVL ICFFLLVILWFSRDPGFMPGWLTVAWVEGETKYVSDATVAIFVATLLFIVPSQKPKFNFRSQTEEERKTPFYPPPLLDWK VTQEKVPWGIVLLLGGGFALAKGSEASGLSVWMGKQMEPLHAVPPAAITLILSLLVAVFTECTSNVATTTLFLPIFASMC SVGGIICQRRGKRERNQD*

Gene Symbol:	SLC13A5
Accession:	NM_001284509
Location:	EXON
Amino Acid Prediction:	N to S (nonsynonymous)
Amino Acid Position:	213

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

Gene Symbol:	SLC13A5
Accession:	NM_001143838
Location:	EXON
Amino Acid Prediction:	N to S (nonsynonymous)
Amino Acid Position:	230

Amino Acid Sequence (Calculated using NCBI transcript definition)
MASALSYVSKFKSFVILFVTPLLLLPLVILMPAKFVRCAYVIILMAIYWCTEVIPLAVTSLMPVLLFPLFQILDSRQVCV QYMKDTNMLFLGGLIVAVAVERWNLHKRIALRTLLWVGAKPARLMLGFMGVTALLSMWISNTATTAMMVPIVEAILQQME ATSAATEAGLELVDKGKAKELPGSQVIFEGPTLGQQEDQERKRLCKAMTLCICYAASIGGTATLTGTGPSVVLLGQMNEL FPDSKDLVNFASWFAFAFPNMLVMLLFAWLWLQFVYMRFNFKKSWGCGLESKKNEKAALKVLQEEYRKLGPLSFAEINVL ICFFLLVILWFSRDPGFMPGWLTVAWVEGETKYVSDATVAIFVATLLFIVPSQKPKFNFRSQTEEERKTPFYPPPLLDWK VTQEKVPWGIVLLLGGGFALAKGSEASGLSVWMGKQMEPLHAVPPAAITLILSLLVAVFTECTSNVATTTLFLPIFASMV KTGVIMNIIGVFCVFLAVNTWGRAIFDLDHFPDWANVTHIET*

Gene Symbol:	SLC13A5
Accession:	NM_001284510
Location:	EXON
Amino Acid Prediction:	N to S (nonsynonymous)
Amino Acid Position:	187

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

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000652320	CLINVAR
dbSNP (RS)	rs760650951	CLINVAR
MedGen	C4014621	CLINVAR
NCBI Gene	SLC13A5	CLINVAR
OMIM	608305	CLINVAR
	615905	CLINVAR