NM_182961.4(SYNE1):c.21155_21156delinsTT (p.Gly7052Val) AND not provided – ClinVar

NM_182961.4(SYNE1):c.21155_21156delinsTT (p.Gly7052Val)

Gene:

SYNE1:spectrin repeat containing nuclear envelope protein 1 [Gene – OMIM – HGNC]

Variant type:

Indel

Cytogenetic location:

6q25.2

Genomic location:

Preferred name:

NM_182961.4(SYNE1):c.21155_21156delinsTT (p.Gly7052Val)

HGVS:

• NC_000006.12:g.152230586_152230587delinsAA
• NG_012855.1:g.411813_411814delinsTT
• NG_012855.2:g.411813_411814delinsTT
• NM_033071.3:c.20942_20943delinsTT
• NM_182961.4:c.21155_21156delinsTTMANE SELECT
• NP_149062.1:p.Gly6981Val
• NP_892006.3:p.Gly7052Val
• LRG_427t1:c.21155_21156delinsTT
• LRG_427t2:c.20942_20943delinsTT
• LRG_427:g.411813_411814delinsTT
• LRG_427p1:p.Gly7052Val
• LRG_427p2:p.Gly6981Val
• NC_000006.11:g.152551721_152551722delinsAA

This HGVS expression did
not pass validation

Protein change:

G6981V

Links:

dbSNP: rs1554245973

NCBI 1000 Genomes Browser:

rs1554245973

Molecular consequence:

• NM_033071.3:c.20942_20943delinsTT – missense variant
  – [Sequence Ontology: SO:0001583]

• NM_182961.4:c.21155_21156delinsTT – missense variant
  – [Sequence Ontology: SO:0001583]

Observations:

1