ClinVar

NM_012073.5(CCT5):c.738G>A (p.Ala246=)

Gene:

CCT5:chaperonin containing TCP1 subunit 5 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p15.2

Genomic location:

• Chr5: 10258400 (on Assembly GRCh38)
• Chr5: 10258512 (on Assembly GRCh37)

Preferred name:

NM_012073.5(CCT5):c.738G>A (p.Ala246=)

HGVS:

• NC_000005.10:g.10258400G>A
• NG_012160.1:g.13231G>A
• NM_001306153.1:c.675G>A
• NM_001306154.2:c.573G>A
• NM_001306155.2:c.459G>A
• NM_001306156.2:c.624G>A
• NM_012073.5:c.738G>AMANE SELECT
• NP_001293082.1:p.Ala225=
• NP_001293083.1:p.Ala191=
• NP_001293084.1:p.Ala153=
• NP_001293085.1:p.Ala208=
• NP_036205.1:p.Ala246=
• LRG_361t1:c.738G>A
• LRG_361:g.13231G>A
• NC_000005.9:g.10258512G>A
• NM_012073.3:c.738G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs11557649

NCBI 1000 Genomes Browser:

rs11557649

Molecular consequence:

• NM_001306153.1:c.675G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001306154.2:c.573G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001306155.2:c.459G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001306156.2:c.624G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_012073.5:c.738G>A - synonymous variant - [Sequence Ontology: SO:0001819]