ClinVar

NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.3

Genomic location:

• Chr5: 141573818 (on Assembly GRCh38)
• Chr5: 140953385 (on Assembly GRCh37)

Preferred name:

NM_005219.5(DIAPH1):c.2032C>T (p.Pro678Ser)

HGVS:

• NC_000005.10:g.141573818G>A
• NG_011594.2:g.50238C>T
• NM_001079812.3:c.2005C>T
• NM_001314007.2:c.2032C>T
• NM_005219.5:c.2032C>TMANE SELECT
• NP_001073280.1:p.Pro669Ser
• NP_001300936.1:p.Pro678Ser
• NP_005210.3:p.Pro678Ser
• LRG_1117t1:c.2005C>T
• LRG_1117t2:c.2032C>T
• LRG_1117:g.50238C>T
• LRG_1117p1:p.Pro669Ser
• LRG_1117p2:p.Pro678Ser
• NC_000005.9:g.140953385G>A
• NG_011594.1:g.50238C>T
• NM_005219.4:c.2032C>T

This HGVS expression did not pass validation

Protein change:

P669S

Links:

dbSNP: rs186370335

NCBI 1000 Genomes Browser:

rs186370335

Molecular consequence:

• NM_001079812.3:c.2005C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001314007.2:c.2032C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005219.5:c.2032C>T - missense variant - [Sequence Ontology: SO:0001583]