rs1554510734 Rat Genome Database

rs1554510734 Rat Genome Database

Submit Data | Help | Video Tutorials | News | Publications | Download | REST API | Citing RGD | Contact

Advanced Search (OLGA)

Variant: rs1554510734 - Homo sapiens

RGD ID:

13612711

RS ID:

rs1554510734

ClinVar ID:

CV523979

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

LOC107986930 NKX2-6

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	8	23,560,003
GRCh38	8	23,702,490

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NC_000008.11:g.23702490G>A NC_000008.10:g.23560003G>A NP_001129743.2:p.Gly289= NG_030636.1:g.9109C>T More...	10/22/2017	synonymous variant	likely benign	Conotruncal cardiac defects

Object Symbol	Species	Term	Qualifier	Evidence	With	Reference	Notes	Source	Original Reference(s)
CV523979	Human	Conotruncal Cardiac Defects		IAGP		8554872	ClinVar Annotator: match by term: Conotruncal heart malformations	ClinVar	PMID:28492532

Gene Symbol:	NKX2-6
Accession:	NM_001136271
Location:	EXON
Amino Acid Prediction:	G to G (synonymous)
Amino Acid Position:	289

Amino Acid Sequence (Calculated using NCBI transcript definition)
MLLSPVTSTPFSVKDILRLERERSCPAASPHPRVRKSPENFQYLRMDAEPRGSEVHNAGGGGGDRKLDGSEPPGGPCEAV LEMDAERMGEPQPGLNAASPLGGGTRVPERGVGNSGDSVRGGRSEQPKARQRRKPRVLFSQAQVLALERRFKQQRYLSAP EREHLASALQLTSTQVKIWFQNRRYKCKRQRQDKSLELAGHPLTPRRVAVPVLVRDGKPCLGPGPGAPAFPSPYSAAVSP YSCYGGYSGAPYGAGYGTCYAGAPSGPAPHTPLASAGFGHGGQNATPQGHLAATLQGVRAW*

Gene Symbol:	LOC107986930
Accession:	XR_001745841
Location:	INTRON;NON-CODING

Gene Symbol:	LOC107986930
Accession:	XR_001745842
Location:	INTRON;NON-CODING

ClinVar GRCh37	ClinVar GRCh38

PMID:28492532

Database	Acc Id	Source(s)
ClinVar	RCV000642306	CLINVAR
dbSNP (RS)	rs1554510734	CLINVAR
MedGen	C1857586	CLINVAR
NCBI Gene	NKX2-6	CLINVAR
OMIM	217095	CLINVAR
	611770	CLINVAR