ClinVar

NM_006563.5(KLF1):c.1025A>T (p.Gln342Leu)

Genes:

LOC117125591:CRISPRi-FlowFISH-validated PRDX2 and RAD23A regulatory element [Gene]
KLF1:KLF transcription factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 12884949 (on Assembly GRCh38)
• Chr19: 12995763 (on Assembly GRCh37)

Preferred name:

NM_006563.5(KLF1):c.1025A>T (p.Gln342Leu)

HGVS:

• NC_000019.10:g.12884949T>A
• NG_013087.1:g.7255A>T
• NG_068129.1:g.39T>A
• NG_068129.2:g.115T>A
• NM_006563.5:c.1025A>TMANE SELECT
• NP_006554.1:p.Gln342Leu
• NP_006554.1:p.Gln342Leu
• LRG_825t1:c.1025A>T
• LRG_825:g.7255A>T
• LRG_825p1:p.Gln342Leu
• NC_000019.9:g.12995763T>A
• NM_006563.4:c.1025A>T

This HGVS expression did not pass validation

Protein change:

Q342L

Molecular consequence:

• NM_006563.5:c.1025A>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1