ClinVar

NM_006563.5(KLF1):c.13G>A (p.Glu5Lys)

Genes:

LOC117125592:CRISPRi-FlowFISH-validated CALR, DHPS, JUNB, PRDX2, RAD23A, RNASEH2A and WDR83OS regulatory element [Gene]
KLF1:KLF transcription factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

19p13.13

Genomic location:

• Chr19: 12887128 (on Assembly GRCh38)
• Chr19: 12997942 (on Assembly GRCh37)

Preferred name:

NM_006563.5(KLF1):c.13G>A (p.Glu5Lys)

HGVS:

• NC_000019.10:g.12887128C>T
• NG_009292.1:g.969C>T
• NG_013087.1:g.5076G>A
• NG_068130.1:g.1138C>T
• NM_006563.5:c.13G>AMANE SELECT
• NP_006554.1:p.Glu5Lys
• LRG_825:g.5076G>A
• NC_000019.9:g.12997942C>T
• NM_006563.3:c.13G>A
• Q13351:p.Glu5Lys

This HGVS expression did not pass validation

Protein change:

E5K

Links:

UniProtKB: Q13351#VAR_074272; dbSNP: rs483352842

NCBI 1000 Genomes Browser:

rs483352842

Molecular consequence:

• NM_006563.5:c.13G>A - missense variant - [Sequence Ontology: SO:0001583]