ClinVar

NM_003597.5(KLF11):c.938C>T (p.Thr313Ile)

Gene:

KLF11:KLF transcription factor 11 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2p25.1

Genomic location:

• Chr2: 10048275 (on Assembly GRCh38)
• Chr2: 10188402 (on Assembly GRCh37)

Preferred name:

NM_003597.5(KLF11):c.938C>T (p.Thr313Ile)

HGVS:

• NC_000002.12:g.10048275C>T
• NG_017199.1:g.9721C>T
• NG_017199.2:g.9727C>T
• NM_001177716.2:c.887C>T
• NM_001177718.2:c.887C>T
• NM_003597.5:c.938C>TMANE SELECT
• NP_001171187.1:p.Thr296Ile
• NP_001171189.1:p.Thr296Ile
• NP_003588.1:p.Thr313Ile
• NC_000002.11:g.10188402C>T
• NM_003597.4:c.938C>T

This HGVS expression did not pass validation

Protein change:

T296I

Molecular consequence:

• NM_001177716.2:c.887C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001177718.2:c.887C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_003597.5:c.938C>T - missense variant - [Sequence Ontology: SO:0001583]