ClinVar

NM_005219.5(DIAPH1):c.1821TCC[14] (p.Pro618_Pro620dup)

Gene:

DIAPH1:diaphanous related formin 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

5q31.3

Genomic location:

• Chr5: 141573996 - 141573997 (on Assembly GRCh38)
• Chr5: 140953563 - 140953564 (on Assembly GRCh37)

Preferred name:

NM_005219.5(DIAPH1):c.1821TCC[14] (p.Pro618_Pro620dup)

HGVS:

• NC_000005.10:g.141573998GAG[14]
• NG_011594.2:g.50027TCC[14]
• NM_001079812.3:c.1794TCC[14]
• NM_001314007.2:c.1821TCC[14]
• NM_005219.5:c.1821TCC[14]MANE SELECT
• NP_001073280.1:p.Pro609_Pro611dup
• NP_001300936.1:p.Pro618_Pro620dup
• NP_005210.3:p.Pro618_Pro620dup
• LRG_1117t1:c.1794TCC[14]
• LRG_1117t2:c.1821TCC[14]
• LRG_1117:g.50027TCC[14]
• LRG_1117p1:p.Pro609_Pro611dup
• LRG_1117p2:p.Pro618_Pro620dup
• NC_000005.9:g.140953563_140953564insGGAGGAGGA
• NC_000005.9:g.140953565GAG[14]
• NM_005219.4:c.1845_1853dup
• NM_005219.4:c.1845_1853dup9

This HGVS expression did not pass validation

Links:

dbSNP: rs3075570

NCBI 1000 Genomes Browser:

rs3075570

Molecular consequence:

• NM_001079812.3:c.1794TCC[14] - inframe_insertion - [Sequence Ontology: SO:0001821]
• NM_001314007.2:c.1821TCC[14] - inframe_insertion - [Sequence Ontology: SO:0001821]
• NM_005219.5:c.1821TCC[14] - inframe_insertion - [Sequence Ontology: SO:0001821]