rs1571908056 Rat Genome Database

rs1571908056 Rat Genome Database

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Variant: rs1571908056 - Homo sapiens

RGD ID:

38474034

RS ID:

rs1571908056

ClinVar ID:

CV861134

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

GJC2

Reference Nucleotide:

T

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	1	228,346,192
GRCh38	1	228,158,491

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_020435.4:c.733T>A NG_011838.1:g.13640T>A NC_000001.11:g.228158491T>A NC_000001.10:g.228346192T>A NP_065168.2:p.Cys245Ser More...	07/05/2019	missense variant	likely pathogenic\|uncertain significance	PELIZAEUS-MERZBACHER-LIKE DISEASE, 1

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV861134	Human	hypomyelinating leukodystrophy 2		IAGP		8554872	ClinVar Annotator: match by term: Leukodystrophy more ...	ClinVar	PMID:25741868

Gene Symbol:	GJC2
Accession:	NM_020435
Location:	EXON
Amino Acid Prediction:	C to S (nonsynonymous)
Amino Acid Position:	245

Amino Acid Sequence (Calculated using NCBI transcript definition)
MTNMSWSFLTRLLEEIHNHSTFVGKVWLTVLVVFRIVLTAVGGEAIYSDEQAKFTCNTRQPGCDNVCYDAFAPLSHVRFW VFQIVVISTPSVMYLGYAVHRLARASEQERRRALRRRPGPRRAPRAHLPPPHAGWPEPADLGEEEPMLGLGEEEEEEETG AAEGAGEEAEEAGAEEACTKAVGADGKAAGTPGPTGQHDGRRRIQREGLMRVYVAQLVARAAFEVAFLVGQYLLYGFEVR PFFPSSRQPCPHVVDCFVSRPTEKTVFLLVMYVVSCLCLLLNLCEMAHLGLGSAQDAVRGRRGPPASAPAPAPRPPPCAF PAAAAGLACPPDYSLVVRAAERARAHDQNLANLALQALRDGAAAGDRDRDSSPCVGLPAASRGPPRAGAPASRTGSATSA GTVGEQGRPGTHERPGAKPRAGSEKGSASSRDGKTTVWI*

ClinVar GRCh37	ClinVar GRCh38

PMID:25741868

Database	Acc Id	Source(s)
ClinVar	RCV001249464	CLINVAR
dbSNP (RS)	rs1571908056	CLINVAR
MedGen	C1837355	CLINVAR
NCBI Gene	GJC2	CLINVAR
OMIM	608803	CLINVAR
	608804	CLINVAR