<p>Assuming this is a diploid genome, this looks like it could be a heterozygous variant (i.e. A is present on one chromosome, and G is present on the other chromosome).</p>

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2023-06-22T23:12:42.833Z
2023-06-22T23:12:42.833Z
gringer
<p><a href="https://i.sstatic.net/Rv8MG.png" rel="nofollow noreferrer"><img src="https://i.sstatic.net/Rv8MG.png" alt="enter image description here" /></a>
Hi all, I am checking if a gene which around 50k base pairs has mutation. So is that a variant from A to G? Would you please tell me how to do so? Thank you so much!</p>
<p>The reference sequence from GRCh38, sequenced using Illumina technology.</p>

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2023-06-25T22:10:02.627Z
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gringer
<sam><vcf>
Check mutation of a gene
# Check mutation of a gene

(Asked by: username_0 on 2023-06-22)

[![enter image description here](https://i.sstatic.net/Rv8MG.png)](https://i.sstatic.net/Rv8MG.png)
Hi all, I am checking if a gene which around 50k base pairs has mutation. So is that a variant from A to G? Would you please tell me how to do so? Thank you so much!

The reference sequence from GRCh38, sequenced using Illumina technology.

**Tags:** sam, vcf
> **Comments:**
> **username_1**: **Comments have been [moved to chat](https://chat.stackexchange.com/rooms/146872/discussion-on-question-by-chris-check-mutation-of-a-gene); please do not continue the discussion here.** Before posting a comment below this one, please review the [purposes of comments](/help/privileges/comment). Comments that do not request clarification or suggest improvements usually belong as an [answer](/help/how-to-answer), on [meta], or in [chat]. Comments continuing discussion may be removed.  

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## 1 answers

### Answer by username_1 on 2023-06-22. Score: 1 | Accepted answer

Assuming this is a diploid genome, this looks like it could be a heterozygous variant (i.e. A is present on one chromosome, and G is present on the other chromosome).


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