ClinVar

NM_014140.4(SMARCAL1):c.2449C>A (p.Arg817Ser)

Gene:

SMARCAL1:SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a like 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

• Chr2: 216477130 (on Assembly GRCh38)
• Chr2: 217341853 (on Assembly GRCh37)

Preferred name:

NM_014140.4(SMARCAL1):c.2449C>A (p.Arg817Ser)

HGVS:

• NC_000002.12:g.216477130C>A
• NG_009771.1:g.69717C>A
• NM_001127207.2:c.2449C>A
• NM_014140.4:c.2449C>AMANE SELECT
• NP_001120679.1:p.Arg817Ser
• NP_054859.2:p.Arg817Ser
• LRG_108:g.69717C>A
• NC_000002.11:g.217341853C>A

This HGVS expression did not pass validation

Protein change:

R817S

Links:

dbSNP: rs794727171

NCBI 1000 Genomes Browser:

rs794727171

Molecular consequence:

• NM_001127207.2:c.2449C>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014140.4:c.2449C>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1