ClinVar

NM_001160372.4(TRAPPC9):c.1407C>T (p.Tyr469=)

Gene:

TRAPPC9:trafficking protein particle complex subunit 9 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 140360138 (on Assembly GRCh38)
• Chr8: 141370237 (on Assembly GRCh37)

Preferred name:

NM_001160372.4(TRAPPC9):c.1407C>T (p.Tyr469=)

HGVS:

• NC_000008.11:g.140360138G>A
• NG_016478.3:g.103442C>T
• NM_001160372.4:c.1407C>TMANE SELECT
• NM_001321646.2:c.1380C>T
• NM_001374682.1:c.1428C>T
• NM_001374683.1:c.1407C>T
• NM_001374684.1:c.1351+10826C>T
• NM_031466.8:c.1407C>T
• NP_001153844.1:p.Tyr469=
• NP_001308575.1:p.Tyr460=
• NP_001361611.1:p.Tyr476=
• NP_001361612.1:p.Tyr469=
• NP_113654.4:p.Tyr567=
• NP_113654.5:p.Tyr469=
• LRG_1041t1:c.1407C>T
• LRG_1041t2:c.1407C>T
• LRG_1041:g.103442C>T
• LRG_1041p1:p.Tyr469=
• LRG_1041p2:p.Tyr469=
• NC_000008.10:g.141370237G>A
• NG_016478.2:g.103442C>T
• NM_031466.5:c.1701C>T
• NM_031466.7:c.1701C>T
• NR_164662.1:n.1496C>T

This HGVS expression did not pass validation

Links:

dbSNP: rs117632905

NCBI 1000 Genomes Browser:

rs117632905

Molecular consequence:

• NM_001374684.1:c.1351+10826C>T - intron variant - [Sequence Ontology: SO:0001627]
• NR_164662.1:n.1496C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001160372.4:c.1407C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001321646.2:c.1380C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374682.1:c.1428C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001374683.1:c.1407C>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_031466.8:c.1407C>T - synonymous variant - [Sequence Ontology: SO:0001819]