ClinVar

NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp)

Gene:

SMARCAL1:SNF2 related chromatin remodeling annealing helicase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 216420398 (on Assembly GRCh38)
• Chr2: 217285121 (on Assembly GRCh37)

Preferred name:

NM_014140.4(SMARCAL1):c.962G>A (p.Gly321Asp)

HGVS:

• NC_000002.12:g.216420398G>A
• NG_009771.1:g.12985G>A
• NM_001127207.2:c.962G>A
• NM_014140.4:c.962G>AMANE SELECT
• NP_001120679.1:p.Gly321Asp
• NP_054859.2:p.Gly321Asp
• NP_054859.2:p.Gly321Asp
• LRG_108t1:c.962G>A
• LRG_108:g.12985G>A
• LRG_108p1:p.Gly321Asp
• NC_000002.11:g.217285121G>A
• NM_014140.3:c.962G>A

This HGVS expression did not pass validation

Protein change:

G321D

Links:

dbSNP: rs148752234

NCBI 1000 Genomes Browser:

rs148752234

Molecular consequence:

• NM_001127207.2:c.962G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014140.4:c.962G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1