ClinVar

NM_004281.4(BAG3):c.898G>A (p.Asp300Asn)

Gene:

BAG3:BAG cochaperone 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.11

Genomic location:

• Chr10: 119672645 (on Assembly GRCh38)
• Chr10: 121432157 (on Assembly GRCh37)

Preferred name:

NM_004281.4(BAG3):c.898G>A (p.Asp300Asn)

Other names:

p.D300N:GAC>AAC

HGVS:

• NC_000010.11:g.119672645G>A
• NG_016125.1:g.26276G>A
• NM_004281.4:c.898G>AMANE SELECT
• NP_004272.2:p.Asp300Asn
• NP_004272.2:p.Asp300Asn
• LRG_742t1:c.898G>A
• LRG_742:g.26276G>A
• LRG_742p1:p.Asp300Asn
• NC_000010.10:g.121432157G>A
• NM_004281.3:c.898G>A
• O95817:p.Asp300Asn

This HGVS expression did not pass validation

Protein change:

D300N

Links:

UniProtKB: O95817#VAR_066783; dbSNP: rs78439745

NCBI 1000 Genomes Browser:

rs78439745

Molecular consequence:

• NM_004281.4:c.898G>A - missense variant - [Sequence Ontology: SO:0001583]