ClinVar

NM_001353694.2(TIAM1):c.2840C>T (p.Pro947Leu)

Gene:

TIAM1:TIAM Rac1 associated GEF 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

21q22.11

Genomic location:

• Chr21: 31182468 (on Assembly GRCh38)
• Chr21: 32554785 (on Assembly GRCh37)

Preferred name:

NM_001353694.2(TIAM1):c.2840C>T (p.Pro947Leu)

HGVS:

• NC_000021.9:g.31182468G>A
• NG_144161.1:g.65G>A
• NM_001353686.2:c.2840C>T
• NM_001353687.2:c.2765C>T
• NM_001353688.1:c.2840C>T
• NM_001353689.1:c.2840C>T
• NM_001353690.1:c.2840C>T
• NM_001353691.1:c.2840C>T
• NM_001353692.1:c.2840C>T
• NM_001353693.1:c.2840C>T
• NM_001353694.2:c.2840C>TMANE SELECT
• NM_003253.3:c.2840C>T
• NP_001340615.1:p.Pro947Leu
• NP_001340616.1:p.Pro922Leu
• NP_001340617.1:p.Pro947Leu
• NP_001340618.1:p.Pro947Leu
• NP_001340619.1:p.Pro947Leu
• NP_001340620.1:p.Pro947Leu
• NP_001340621.1:p.Pro947Leu
• NP_001340622.1:p.Pro947Leu
• NP_001340623.1:p.Pro947Leu
• NP_003244.2:p.Pro947Leu
• NC_000021.8:g.32554785G>A
• NM_003253.2:c.2840C>T

This HGVS expression did not pass validation

Protein change:

P922L

Molecular consequence:

• NM_001353686.2:c.2840C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353687.2:c.2765C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353688.1:c.2840C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353689.1:c.2840C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353690.1:c.2840C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353691.1:c.2840C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353692.1:c.2840C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353693.1:c.2840C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001353694.2:c.2840C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003253.3:c.2840C>T - missense variant - [Sequence Ontology: SO:0001583]