ClinVar

NM_001323342.2(AHCTF1):c.4449G>A (p.Ala1483=)

Gene:

AHCTF1:AT-hook containing transcription factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q44

Genomic location:

• Chr1: 246853205 (on Assembly GRCh38)
• Chr1: 247016507 (on Assembly GRCh37)

Preferred name:

NM_001323342.2(AHCTF1):c.4449G>A (p.Ala1483=)

HGVS:

• NC_000001.11:g.246853205C>T
• NM_001323342.2:c.4449G>AMANE SELECT
• NM_001323343.2:c.4449G>A
• NM_001410950.1:c.4554G>A
• NM_015446.5:c.4476G>A
• NP_001310271.1:p.Ala1483=
• NP_001310272.1:p.Ala1483=
• NP_001397879.1:p.Ala1518=
• NP_056261.4:p.Ala1492=
• NC_000001.10:g.247016507C>T
• NR_136586.2:n.4827G>A

This HGVS expression did not pass validation

Molecular consequence:

• NR_136586.2:n.4827G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001323342.2:c.4449G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001323343.2:c.4449G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001410950.1:c.4554G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_015446.5:c.4476G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

1