ClinVar

NM_001323342.2(AHCTF1):c.6050G>T (p.Ser2017Ile)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

1q44

Genomic location:

• Chr1: 246849956 (on Assembly GRCh38)
• Chr1: 247013258 (on Assembly GRCh37)

Preferred name:

NM_001323342.2(AHCTF1):c.6050G>T (p.Ser2017Ile)

HGVS:

• NC_000001.11:g.246849956C>A
• NM_001323342.2:c.6050G>TMANE SELECT
• NM_001323343.2:c.6050G>T
• NM_001410950.1:c.6155G>T
• NM_015446.5:c.6077G>T
• NP_001310271.1:p.Ser2017Ile
• NP_001310272.1:p.Ser2017Ile
• NP_001397879.1:p.Ser2052Ile
• NP_056261.4:p.Ser2026Ile
• NC_000001.10:g.247013258C>A
• NM_015446.4:c.6077G>T
• NR_136586.2:n.6562G>T

This HGVS expression did not pass validation

Protein change:

S2017I

Molecular consequence:

• NM_001323342.2:c.6050G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323343.2:c.6050G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001410950.1:c.6155G>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015446.5:c.6077G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_136586.2:n.6562G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]