ClinVar

NM_001160372.4(TRAPPC9):c.3421G>A (p.Val1141Met)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.3

Genomic location:

• Chr8: 139731087 (on Assembly GRCh38)
• Chr8: 140743330 (on Assembly GRCh37)

Preferred name:

NM_001160372.4(TRAPPC9):c.3421G>A (p.Val1141Met)

HGVS:

• NC_000008.11:g.139731087C>T
• NG_016478.3:g.732493G>A
• NM_001160372.4:c.3421G>AMANE SELECT
• NM_001321646.2:c.3394G>A
• NM_001374682.1:c.3442G>A
• NM_001374683.1:c.3310G>A
• NM_001374684.1:c.3277G>A
• NM_031466.8:c.3421G>A
• NM_031466.8:c.3421G>A
• NP_001153844.1:p.Val1141Met
• NP_001308575.1:p.Val1132Met
• NP_001361611.1:p.Val1148Met
• NP_001361612.1:p.Val1104Met
• NP_001361613.1:p.Val1093Met
• NP_113654.4:p.Val1239Met
• NP_113654.5:p.Val1141Met
• LRG_1041t1:c.3421G>A
• LRG_1041t2:c.3421G>A
• LRG_1041:g.732493G>A
• LRG_1041p1:p.Val1141Met
• LRG_1041p2:p.Val1141Met
• NC_000008.10:g.140743330C>T
• NC_000008.10:g.140743330C>T
• NG_016478.2:g.732493G>A
• NM_031466.5:c.3715G>A
• NM_031466.7:c.3715G>A
• NR_164662.1:n.3583G>A

This HGVS expression did not pass validation

Protein change:

V1093M

Links:

dbSNP: rs140157207

NCBI 1000 Genomes Browser:

rs140157207

Molecular consequence:

• NM_001160372.4:c.3421G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001321646.2:c.3394G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374682.1:c.3442G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374683.1:c.3310G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001374684.1:c.3277G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_031466.8:c.3421G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_164662.1:n.3583G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

1