ClinVar

NM_004281.4(BAG3):c.645C>T (p.Asn215=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

10q26.11

Genomic location:

• Chr10: 119672392 (on Assembly GRCh38)
• Chr10: 121431904 (on Assembly GRCh37)

Preferred name:

NM_004281.4(BAG3):c.645C>T (p.Asn215=)

HGVS:

• NC_000010.11:g.119672392C>T
• NG_016125.1:g.26023C>T
• NM_004281.4:c.645C>TMANE SELECT
• NP_004272.2:p.Asn215=
• NP_004272.2:p.Asn215=
• LRG_742t1:c.645C>T
• LRG_742:g.26023C>T
• LRG_742p1:p.Asn215=
• NC_000010.10:g.121431904C>T
• NM_004281.3:c.645C>T
• p.Asn215Asn

This HGVS expression did not pass validation

Links:

dbSNP: rs138078305

NCBI 1000 Genomes Browser:

rs138078305

Molecular consequence:

• NM_004281.4:c.645C>T - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

3