rs1131692248 Rat Genome Database

rs1131692248 Rat Genome Database

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Variant: rs1131692248 - Homo sapiens

RGD ID:

13207920

RS ID:

rs1131692248

ClinVar ID:

CV424387

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

MYMK

Reference Nucleotide:

A

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	9	136,389,965
GRCh38	9	133,524,843

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Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Age of Onset	Prevalence	Trait Synonyms
NC_000009.12:g.133524843A>T NC_000009.11:g.136389965A>T NP_001073952.1:p.Met1Lys NM_001080483.3:c.2T>A NM_001080483.2:c.2T>A More...	07/19/2017	initiatior codon variant\|initiator_codon_variant\|missense variant	pathogenic	neonatal	<1 / 1 000 000	Carey-Fineman-Ziter syndrome; CFZ syndrome; Congenital nonprogressive myopathy with Moebius and Robin sequence; Moebius sequence, Robin complex, and hypotonia

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV424387	Human	Carey-Fineman-Ziter syndrome		IAGP		8554872	ClinVar Annotator: match by term: Congenital nonprogressive myopathy with Moebius and Robin sequences	ClinVar	PMID:28681861

Gene Symbol:	MYMK
Accession:	NM_001080483
Location:	EXON

ClinVar GRCh37	ClinVar GRCh38

PMID:28681861

Database	Acc Id	Source(s)
ClinVar	RCV000495944	CLINVAR
dbSNP (RS)	rs1131692248	CLINVAR
MedGen	C1850746	CLINVAR
NCBI Gene	MYMK	CLINVAR
OMIM	615345	CLINVAR
OMIM Allele	615345.0004	CLINVAR
SNOMED CT	429753001	CLINVAR