ClinVar

NM_001300.6(KLF6):c.603G>A (p.Arg201=)

Gene:

KLF6:KLF transcription factor 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10p15.2

Genomic location:

• Chr10: 3781714 (on Assembly GRCh38)
• Chr10: 3823906 (on Assembly GRCh37)

Preferred name:

NM_001300.6(KLF6):c.603G>A (p.Arg201=)

HGVS:

• NC_000010.11:g.3781714C>T
• NG_012277.1:g.8568G>A
• NM_001160124.2:c.550+53G>A
• NM_001160125.2:c.603G>A
• NM_001300.6:c.603G>AMANE SELECT
• NP_001153597.1:p.Arg201=
• NP_001291.3:p.Arg201=
• NC_000010.10:g.3823906C>T
• NM_001300.5:c.603G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs112847236

NCBI 1000 Genomes Browser:

rs112847236

Molecular consequence:

• NM_001160124.2:c.550+53G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001160125.2:c.603G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001300.6:c.603G>A - synonymous variant - [Sequence Ontology: SO:0001819]