ClinVar

NM_005219.5(DIAPH1):c.891G>A (p.Pro297=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

5q31.3

Genomic location:

• Chr5: 141579130 (on Assembly GRCh38)
• Chr5: 140958697 (on Assembly GRCh37)

Preferred name:

NM_005219.5(DIAPH1):c.891G>A (p.Pro297=)

HGVS:

• NC_000005.10:g.141579130C>T
• NG_011594.2:g.44926G>A
• NM_001079812.3:c.864G>A
• NM_001314007.2:c.891G>A
• NM_005219.5:c.891G>AMANE SELECT
• NP_001073280.1:p.Pro288=
• NP_001300936.1:p.Pro297=
• NP_005210.3:p.Pro297=
• LRG_1117t1:c.864G>A
• LRG_1117t2:c.891G>A
• LRG_1117:g.44926G>A
• LRG_1117p1:p.Pro288=
• LRG_1117p2:p.Pro297=
• NC_000005.9:g.140958697C>T
• NG_011594.1:g.44926G>A
• NM_005219.4:c.891G>A
• p.Pro297Pro

This HGVS expression did not pass validation

Links:

dbSNP: rs116463365

NCBI 1000 Genomes Browser:

rs116463365

Molecular consequence:

• NM_001079812.3:c.864G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001314007.2:c.891G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_005219.5:c.891G>A - synonymous variant - [Sequence Ontology: SO:0001819]