ClinVar

NM_020436.5(SALL4):c.2447G>A (p.Arg816His)

Gene:

SALL4:spalt like transcription factor 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

20q13.2

Genomic location:

• Chr20: 51790036 (on Assembly GRCh38)
• Chr20: 50406575 (on Assembly GRCh37)

Preferred name:

NM_020436.5(SALL4):c.2447G>A (p.Arg816His)

HGVS:

• NC_000020.11:g.51790036C>T
• NG_008000.1:g.17474G>A
• NM_001318031.2:c.1151-895G>A
• NM_020436.5:c.2447G>AMANE SELECT
• NP_065169.1:p.Arg816His
• LRG_675:g.17474G>A
• NC_000020.10:g.50406575C>T
• NM_020436.3:c.2447G>A

This HGVS expression did not pass validation

Protein change:

R816H

Links:

dbSNP: rs747560279

NCBI 1000 Genomes Browser:

rs747560279

Molecular consequence:

• NM_001318031.2:c.1151-895G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_020436.5:c.2447G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1