rs549433538 Rat Genome Database

rs549433538 Rat Genome Database

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Variant: rs549433538 - Homo sapiens

RGD ID:

152977976

RS ID:

rs549433538

ClinVar ID:

CV1671352

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

GPI

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	19	34,855,821
GRCh38	19	34,364,916

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
LRG_1178:g.10325G>A NG_012838.3:g.10325G>A NC_000019.10:g.34364916G>A NC_000019.9:g.34855821G>A More...	09/24/2024	missense variant	likely benign\|uncertain significance	ANEMIA, CONGENITAL, NONSPHEROCYTIC HEMOLYTIC, 4; GPI-related condition; Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV1671352	Human	congenital nonspherocytic hemolytic anemia 4		IAGP		8554872	ClinVar Annotator: match by term: Hemolytic anemia, nonspherocytic, due to glucose phosphate isomerase deficiency	ClinVar

Gene Symbol:	GPI
Accession:	NM_001289789
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	3

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVTLCSLQHLGSSDPRALPTLPTATSGQRPAKRRRKSPAMAALTRDPQFQKLQQWYREHRSELNLRRLFDANKDRFNHFS LTLNTNHGHILVDYSKNLVTEDVMRMLVDLAKSRGVEAARERMFNGEKINYTEGRAVLHVALRNRSNTPILVDGKDVMPE VNKVLDKMKSFCQRVRSGDWKGYTGKTITDVINIGIGGSDLGPLMVTEALKPYSSGGPRVWYVSNIDGTHIAKTLAQLNP ESSLFIIASKTFTTQETITNAETAKEWFLQAAKDPSAVAKHFVALSTNTTKVKEFGIDPQNMFEFWDWVGGRYSLWSAIG LSIALHVGFDNFEQLLSGAHWMDQHFRTTPLEKNAPVLLALLGIWYINCFGCETHAMLPYDQYLHRFAAYFQQGDMESNG KYITKSGTRVDHQTGPIVWGEPGTNGQHAFYQLIHQGTKMIPCDFLIPVQTQHPIRKGLHHKILLANFLAQTEALMRGKS TEEARKELQAAGKSPEDLERLLPHKVFEGNRPTNSIVFTKLTPFMLGALVAMYEHKIFVQGIIWDINSFDQWGVELGKQL AKKIEPELDGSAQVTSHDASTNGLINFIKQQREARVQ*

Gene Symbol:	GPI
Accession:	XM_011526754
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	3

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVTLCSLQHLGSSDPRALPTLPTATSGQRPAKRRRKSPAMAALTRDPQFQKLQQWYREHRSELNLRRLFDANKDRFNHFS LTLNTNHGHILVDYSKNLVTEDVMRMLVDLAKSRGVEAARERMFNGEKINYTEGRAVLHVALRNRSNTPILVDGKDVMPE VNKVLDKMKSFCQRVRSGDWKGYTGKTITDVINIGIGGSDLGPLMVTEALKPYSSGGPRVWYVSNIDGTHIAKTLAQLNP ESSLFIIASKTFTTQETITNAETAKEWFLQAAKDPSAVAKHFVALSTNTTKVKEFGIDPQNMFEFWDWVGGRYSLWSAIG LSIALHVGFDNFEQLLSGAHWMDQHFRTTPLEKNAPVLLALLGIWYINCFGCETHAMLPYDQYLHRFAAYFQQGDMESNG KYITKSGTRVDHQTGPIVWGEPGTNGQHAFYQLIHQGTKMIPCDFLIPVQTQHPIRKGLHHKILLANFLAQTEALMRGKS TEEARKELQAAGKSPEDLERLLPHKVFEGNRPTNSIVFTKLTPFMLGALVAMYEHKIFVQGIIWDINSFDQWGVELGKQL AKKIEPELDGSAQVTSHDASTNGLINFIKQQREARVQ*

Gene Symbol:	GPI
Accession:	NM_001184722
Location:	EXON
Amino Acid Prediction:	A to T (nonsynonymous)
Amino Acid Position:	3

Amino Acid Sequence (Calculated using NCBI transcript definition)
MVTLCSLQHLGSSDPRALPTLPTATSGQRPAKRRRKSPAMAALTRDPQFQKLQQWYREHRSELNLRRLFDANKDRFNHFS LTLNTNHGHILVDYSKNLVTEDVMRMLVDLAKSRGVEAARERMFNGEKINYTEGRAVLHVALRNRSNTPILVDGKDVMPE VNKVLDKMKSFCQGPLMVTEALKPYSSGGPRVWYVSNIDGTHIAKTLAQLNPESSLFIIASKTFTTQETITNAETAKEWF LQAAKDPSAVAKHFVALSTNTTKVKEFGIDPQNMFEFWDWVGGRYSLWSAIGLSIALHVGFDNFEQLLSGAHWMDQHFRT TPLEKNAPVLLALLGIWYINCFGCETHAMLPYDQYLHRFAAYFQQGDMESNGKYITKSGTRVDHQTGPIVWGEPGTNGQH AFYQLIHQGTKMIPCDFLIPVQTQHPIRKGLHHKILLANFLAQTEALMRGKSTEEARKELQAAGKSPEDLERLLPHKVFE GNRPTNSIVFTKLTPFMLGALVAMYEHKIFVQGIIWDINSFDQWGVELGKQLAKKIEPELDGSAQVTSHDASTNGLINFI KQQREARVQ*

Gene Symbol:	GPI
Accession:	NM_001329909
Location:	INTRON

Gene Symbol:	GPI
Accession:	NM_001329911
Location:	INTRON

Gene Symbol:	GPI
Accession:	NM_001329910
Location:	INTRON

Gene Symbol:	GPI
Accession:	NM_000175
Location:	INTRON

Gene Symbol:	GPI
Accession:	NM_001289790
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV002227311	CLINVAR
	RCV004756380	CLINVAR
dbSNP (RS)	rs549433538	CLINVAR
MedGen	C3150730	CLINVAR
NCBI Gene	GPI	CLINVAR
OMIM	172400	CLINVAR
	613470	CLINVAR