ClinVar

NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup)

Gene:

SALL1:spalt like transcription factor 1 [Gene - OMIM - HGNC]

Variant type:

Microsatellite

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 51141744 - 51141745 (on Assembly GRCh38)
• Chr16: 51175655 - 51175656 (on Assembly GRCh37)

Preferred name:

NM_002968.3(SALL1):c.448AGC[13] (p.Ser157_Ser159dup)

HGVS:

• NC_000016.10:g.51141745GCT[13]
• NC_000016.10:g.51141745_51141747GCT[13]
• NG_007990.1:g.14499AGC[13]
• NM_001127892.2:c.157AGC[13]
• NM_002968.3:c.448AGC[13]MANE SELECT
• NP_001121364.1:p.Ser60_Ser62dup
• NP_002959.2:p.Ser157_Ser159dup
• LRG_674t1:c.469_477dup
• LRG_674:g.14499AGC[13]
• NC_000016.9:g.51175655_51175656insGCTGCTGCT
• NC_000016.9:g.51175656GCT[13]
• NM_002968.2:c.469_477dup
• NM_002968.2:c.469_477dupAGCAGCAGC
• NM_002968.3:c.469_477dupMANE SELECT

This HGVS expression did not pass validation

Links:

dbSNP: rs113614842

NCBI 1000 Genomes Browser:

rs113614842

Molecular consequence:

• NM_001127892.2:c.157AGC[13] - inframe_insertion - [Sequence Ontology: SO:0001821]
• NM_002968.3:c.448AGC[13] - inframe_insertion - [Sequence Ontology: SO:0001821]

Observations:

4