ClinVar

NM_001364564.1(SALL2):c.2264C>T (p.Ser755Leu)

Gene:

SALL2:spalt like transcription factor 2 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

14q11.2

Genomic location:

• Chr14: 21523458 (on Assembly GRCh38)
• Chr14: 21991592 (on Assembly GRCh37)

Preferred name:

NM_001364564.1(SALL2):c.2264C>T (p.Ser755Leu)

HGVS:

• NC_000014.9:g.21523458G>A
• NG_051069.1:g.18759C>T
• NM_001291446.2:c.1865C>T
• NM_001291447.2:c.1859C>T
• NM_001364564.1:c.2264C>TMANE SELECT
• NM_005407.3:c.2270C>T
• NP_001278375.1:p.Ser622Leu
• NP_001278376.1:p.Ser620Leu
• NP_001351493.1:p.Ser755Leu
• NP_005398.2:p.Ser757Leu
• NC_000014.8:g.21991592G>A
• NM_005407.1:c.2270C>T

This HGVS expression did not pass validation

Protein change:

S620L

Molecular consequence:

• NM_001291446.2:c.1865C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001291447.2:c.1859C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001364564.1:c.2264C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_005407.3:c.2270C>T - missense variant - [Sequence Ontology: SO:0001583]