ClinVar

NM_002968.3(SALL1):c.3222G>A (p.Ala1074=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 51139000 (on Assembly GRCh38)
• Chr16: 51172911 (on Assembly GRCh37)

Preferred name:

NM_002968.3(SALL1):c.3222G>A (p.Ala1074=)

HGVS:

• NC_000016.10:g.51139000C>T
• NG_007990.1:g.17273G>A
• NM_001127892.2:c.2931G>A
• NM_002968.3:c.3222G>AMANE SELECT
• NP_001121364.1:p.Ala977=
• NP_002959.2:p.Ala1074=
• NP_002959.2:p.Ala1074=
• LRG_674t1:c.3222G>A
• LRG_674:g.17273G>A
• LRG_674p1:p.Ala1074=
• NC_000016.9:g.51172911C>T
• NM_002968.2:c.3222G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs61731131

NCBI 1000 Genomes Browser:

rs61731131

Molecular consequence:

• NM_001127892.2:c.2931G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002968.3:c.3222G>A - synonymous variant - [Sequence Ontology: SO:0001819]